ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1446G>C (p.Ala482=)

gnomAD frequency: 0.00022  dbSNP: rs3913543
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597399 SCV000705130 uncertain significance not provided 2016-12-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111959 SCV001269569 uncertain significance Oculocutaneous albinism 2017-04-28 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.
Genome-Nilou Lab RCV001785675 SCV002027320 uncertain significance Oculocutaneous albinism type 1A 2021-09-05 criteria provided, single submitter clinical testing

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