ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.107G>A (p.Cys36Tyr)

dbSNP: rs61753179
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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 RCV000085892 SCV004294161 pathogenic not provided 2023-09-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Cys36 amino acid residue in TYR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 32552135, 34838614). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 99530). This missense change has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 10987646, 27734839, 29345414, 30472657, 34838614). This variant is present in population databases (rs61753179, gnomAD 0.0009%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 36 of the TYR protein (p.Cys36Tyr).
Retina International RCV000085892 SCV000118035 not provided not provided no assertion provided not provided

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