ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)

gnomAD frequency: 0.00006  dbSNP: rs190612616
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000179281 SCV001774171 pathogenic not provided 2025-01-25 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: 12713581, 23824587, 21735174, 28976636, 19060277, 28451379, 32966289, 31077556, 36087940, 31813138, 31196117, 29437493, 34838614, 38707509)
Genome-Nilou Lab RCV001797665 SCV002040092 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179281 SCV002157569 pathogenic not provided 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 211 of the OCA2 protein (p.Pro211Leu). This variant is present in population databases (rs190612616, gnomAD 0.06%). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 12713581, 28976636, 29437493, 31077556, 31813138). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 198064). 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) indicates that this missense variant is not expected to disrupt OCA2 protein function with a negative predictive value of 80%. This variant disrupts the p.Pro211 amino acid residue in OCA2. Other variant(s) that disrupt this residue have been observed in individuals with OCA2-related conditions (PMID: 25412400), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003468870 SCV004209004 pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-02-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003534 SCV005630599 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2023-12-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000179281 SCV000231506 uncertain significance not provided 2014-11-18 flagged submission clinical testing

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