ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.278G>A (p.Arg93His)

gnomAD frequency: 0.01118  dbSNP: rs61752937
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175632 SCV000227156 benign not specified 2014-11-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399302 SCV000477037 uncertain significance Oculocutaneous albinism type 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago RCV000175632 SCV000597803 likely benign not specified 2016-04-07 criteria provided, single submitter clinical testing
Invitae RCV001515414 SCV001723487 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001515414 SCV001873176 benign not provided 2021-02-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27734839)
CeGaT Center for Human Genetics Tuebingen RCV001515414 SCV004032843 benign not provided 2024-03-01 criteria provided, single submitter clinical testing TYRP1: BS1, BS2

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