ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)

gnomAD frequency: 0.00019  dbSNP: rs150335311
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001121677 SCV001280319 benign Tyrosinase-positive oculocutaneous albinism 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001327248 SCV001518314 pathogenic not provided 2024-12-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 387 of the OCA2 protein (p.Thr387Met). This variant is present in population databases (rs150335311, gnomAD 0.08%). This missense change has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 29345414; internal data). ClinVar contains an entry for this variant (Variation ID: 888403). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on OCA2 protein function. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001121677 SCV002040014 likely benign Tyrosinase-positive oculocutaneous albinism 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV001327248 SCV003845485 likely pathogenic not provided 2023-03-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23165166, 29345414, 12713581, 34838614)
Fulgent Genetics, Fulgent Genetics RCV005012577 SCV005630586 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-03-27 criteria provided, single submitter clinical testing

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