ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.290G>T (p.Gly97Val)

gnomAD frequency: 0.00001  dbSNP: rs1320376090
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001969826 SCV002219801 pathogenic not provided 2024-08-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 97 of the TYR protein (p.Gly97Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with ocular albinism (PMID: 15381243, 27734839). 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: 1442280). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt TYR protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects TYR function (PMID: 27537549). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001969826 SCV002820517 likely pathogenic not provided 2022-07-12 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect with absent enzyme activity (Mondal et al., 2016); Observed with a second variant in an individual with OCA in the literature, and testing of one parent suggests the variants are likely present on opposite alleles (in trans) (Goto et al., 2004); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27537549, 15381243)
Baylor Genetics RCV003464274 SCV004207575 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006284 SCV005631912 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-04-11 criteria provided, single submitter clinical testing

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