Table 6.

Notable OPA3 Pathogenic Variants

Reference SequencesDNA Nucleotide Change (Alias 1)Predicted Protein ChangeComment [Reference]
NM_025136​.2 c.143-1G>C
(IVS1-1G>C)		--Accounts for 100% of pathogenic variants of individuals of Iraqi Jewish origin w/Costeff syndrome [Anikster et al 2001]
NM_025136​.2
NP_079412​.1 		c.322_339del
(320_337del)		p.Gln108_Glu113delFound in an individual of Turkish-Kurdish origin w/Costeff syndrome [Kleta et al 2002] 2
c.415C>Tp.Gln139TerFound in an individual of Indian origin w/Costeff syndrome [Ho et al 2008] 3

Variants listed in the table have been provided by the author. 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.

Variant designation that does not conform to current naming conventions

2.

First pathogenic variant found to date in an individual of non-Iraqi Jewish origin

3.

Homozygous pathogenic variant; the second pathogenic variant found to date in an individual of non-Iraqi Jewish origin

From: Costeff Syndrome

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