ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)

dbSNP: rs137854890
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513316 SCV003440456 pathogenic not provided 2024-02-12 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 91 of the TYR protein (p.Cys91Tyr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 22981120, 30472657, 30996339). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 39977). 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 TYR protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003466887 SCV004207552 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-10-17 criteria provided, single submitter clinical testing
OMIM RCV000033111 SCV000056892 pathogenic Oculocutaneous albinism type 1A 2012-10-05 no assertion criteria provided literature only

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