ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.201C>G (p.Asp67Glu)

dbSNP: rs781782991
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224560 SCV001396765 uncertain significance Cataract 1 multiple types 2019-06-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 67 of the GJA8 protein (p.Asp67Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with congenital cataracts (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Asp67 amino acid residue in GJA8. Other variant(s) that disrupt this residue have been observed in individuals with GJA8-related conditions (PMID: 23508780), which suggests that this may be a clinically significant amino acid residue. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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