ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.1354A>G (p.Met452Val)

gnomAD frequency: 0.00006  dbSNP: rs761776915
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503241 SCV000597806 uncertain significance not specified 2016-12-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001167991 SCV001330544 uncertain significance Oculocutaneous albinism type 3 2017-04-27 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.
Invitae RCV001857181 SCV002109608 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 452 of the TYRP1 protein (p.Met452Val). This variant is present in population databases (rs761776915, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of ocular albinism (PMID: 18326704). This variant is also known as c.1351A>G (p.Met451Val). ClinVar contains an entry for this variant (Variation ID: 437184). 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: "Tolerated"; PolyPhen-2: "Probably 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.

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