ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.1226C>T (p.Ala409Val)

gnomAD frequency: 0.00005  dbSNP: rs148248971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485572 SCV000572814 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing 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: 29345414, 23862152)
CeGaT Center for Human Genetics Tuebingen RCV000485572 SCV002063228 pathogenic not provided 2021-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000485572 SCV002240880 pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 409 of the TYRP1 protein (p.Ala409Val). This variant is present in population databases (rs148248971, gnomAD 0.006%). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 29345414). 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: 423157). 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 TYRP1 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV003322776 SCV004028494 likely pathogenic Oculocutaneous albinism type 3 2023-04-11 criteria provided, single submitter clinical testing

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