ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys)

gnomAD frequency: 0.00001  dbSNP: rs149912348
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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 RCV001949398 SCV002245798 pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 369 of the TYR protein (p.Tyr369Cys). This variant is present in population databases (rs149912348, gnomAD 0.002%). This missense change has been observed in individual(s) with TYR-related conditions (PMID: 13680365, 31199599). 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: 1458014). 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 TYR protein function. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464319 SCV004207585 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-08-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008306 SCV005631372 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-01-10 criteria provided, single submitter clinical testing

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