ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.224G>A (p.Gly75Glu)

dbSNP: rs2141895899
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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 RCV001901536 SCV002170986 uncertain significance not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 75 of the OCA2 protein (p.Gly75Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with OCA2-related conditions. 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. 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 RCV002484402 SCV002781969 uncertain significance Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2021-07-26 criteria provided, single submitter clinical testing

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