ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp)

gnomAD frequency: 0.00036  dbSNP: rs138272660
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193567 SCV000249347 uncertain significance not specified 2015-05-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001167993 SCV001330546 uncertain significance Oculocutaneous albinism type 3 2017-05-01 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001303887 SCV001493152 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 471 of the TYRP1 protein (p.Arg471Trp). This variant is present in population databases (rs138272660, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with TYRP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 212528). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002478677 SCV002793953 uncertain significance Oculocutaneous albinism type 3; MELANESIAN BLOND HAIR 2021-07-26 criteria provided, single submitter clinical testing

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