ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) (rs1031268531)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000710029 SCV000840401 pathogenic Tyrosinase-negative oculocutaneous albinism 2018-01-08 criteria provided, single submitter clinical testing This heterozygous missense variant in the TYR gene was identified in a very young patient with oculocutaneous albinism (type 1A) in combination with another variant (deletion ) in the same gene (compound heterozygosity). This variant was inherited form the mother (asymptomatic), while the second variant was inherited from the father (asymptomatic).
Illumina Clinical Services Laboratory,Illumina RCV001109653 SCV001267014 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.

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