ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)

dbSNP: rs104894318
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000085921 SCV001248578 likely pathogenic not provided 2022-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000004006 SCV001810224 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV000085921 SCV003441032 pathogenic not provided 2023-12-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 448 of the TYR protein (p.Asp448Asn). This variant is present in population databases (rs104894318, gnomAD 0.005%). This missense change has been observed in individual(s) with TYR-related conditions (PMID: 1642278, 10987646, 13680365, 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: 3802). 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 not expected to disrupt TYR protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004006 SCV000024172 pathogenic Tyrosinase-negative oculocutaneous albinism 1992-07-15 no assertion criteria provided literature only
Retina International RCV000085921 SCV000118064 not provided not provided no assertion provided not provided

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