ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.943C>T (p.Pro315Ser)

gnomAD frequency: 0.00001  dbSNP: rs201481836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002025506 SCV002269748 uncertain significance not provided 2021-11-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 315 of the OCA2 protein (p.Pro315Ser). This variant is present in population databases (rs201481836, gnomAD 0.004%). This missense change has been observed in individual(s) with albinism (PMID: 21541274). 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 expected to disrupt OCA2 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002497956 SCV002790397 uncertain significance Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2021-09-08 criteria provided, single submitter clinical testing

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