ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)

gnomAD frequency: 0.00001  dbSNP: rs769408559
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587029 SCV001819801 likely pathogenic not provided 2019-11-13 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 18821858, 17236130, 12876664, 10987646)
Labcorp Genetics (formerly Invitae), Labcorp RCV001587029 SCV002244416 pathogenic not provided 2024-07-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 290 of the OCA2 protein (p.Arg290Gly). This variant is present in population databases (rs769408559, gnomAD 0.004%). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 10987646, 27734839, 29345414). 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: 1216648). 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.
CeGaT Center for Human Genetics Tuebingen RCV001587029 SCV002545225 likely pathogenic not provided 2022-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477856 SCV002788465 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2021-07-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463054 SCV004209013 pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-02-07 criteria provided, single submitter clinical testing

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