ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.941T>G (p.Val314Gly)

gnomAD frequency: 0.00004  dbSNP: rs762262964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001547300 SCV001766969 likely pathogenic not provided 2024-06-20 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001547300 SCV002203122 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 314 of the OCA2 protein (p.Val314Gly). This variant is present in population databases (rs762262964, gnomAD 0.01%). This missense change has been observed in individual(s) with ocular albinism (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1187746). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt OCA2 protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005005257 SCV005630596 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-03-15 criteria provided, single submitter clinical testing

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