Table 8.

SETBP1 Pathogenic Variants Referenced in This GeneReview

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment
NM_015559​.3
NP_056374​.2 		c.2602G>Ap.Asp868AsnPathogenic gain-of-function variants clustering w/in a 12-bp hot spot in exon 4 (a degron region) assoc w/classic SGS syndrome 1
c.2602G>Tp.Asp868Tyr
c.2603A>Cp.Asp868Ala
c.2605A>Gp.Ser869Gly
c.2606G>Ap.Ser869Asn
c.2607C>Gp.Ser869Arg
c.2608G>Tp.Gly870Cys
c.2608G>Ap.Gly870Ser
c.2609G>Ap.Gly870Asp
c.2612T>Gp.Ile871Ser
c.2612T>Cp.Ile871Thr

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

It is expected that there will be a spectrum of severity even within classic SGS syndrome-associated pathogenic variants as knowledge regarding the clinical and molecular spectrum continues to evolve. Further, pathogenic SETBP1 missense variants close to this mutational hot spot may lead to features that partially overlap with either SGS or SETBP1 haploinsufficiency disorder (see Genetically Related Disorders).

From: Schinzel-Giedion Syndrome

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