ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1064C>T (p.Ala355Val)

gnomAD frequency: 0.00001  dbSNP: rs570914443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001869018 SCV002219862 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 355 of the OCA2 protein (p.Ala355Val). This variant is present in population databases (rs570914443, gnomAD 0.2%). This missense change has been observed in individual(s) with ocular albinism (PMID: 28266639). ClinVar contains an entry for this variant (Variation ID: 617804). 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) has been performed at Invitae 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. 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.
University of Washington Center for Mendelian Genomics, University of Washington RCV000755084 SCV000882902 likely pathogenic Nonsyndromic Oculocutaneous Albinism 2017-03-07 no assertion criteria provided research

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