ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.196T>C (p.Tyr66His)

dbSNP: rs2114283106
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037343 SCV002114675 likely pathogenic Oculodentodigital dysplasia, autosomal recessive 2021-04-02 criteria provided, single submitter clinical testing 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 has been observed in individual(s) with clinical features of oculodentodigital dysplasia (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with histidine at codon 66 of the GJA1 protein (p.Tyr66His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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