ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.606T>G (p.His202Gln)

gnomAD frequency: 0.00001  dbSNP: rs754661359
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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 RCV001949604 SCV002244461 pathogenic not provided 2021-08-04 criteria provided, single submitter clinical testing This missense change has been observed in individuals with TYR-related conditions and/or albinism (PMID: 20861488, 25216246, 27734839). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs754661359, ExAC 0.001%). This sequence change replaces histidine with glutamine at codon 202 of the TYR protein (p.His202Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine.
Fulgent Genetics, Fulgent Genetics RCV005002726 SCV005631928 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-02-28 criteria provided, single submitter clinical testing

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