ClinVar Miner

Submissions for variant NM_000362.5(TIMP3):c.572A>G (p.Tyr191Cys)

dbSNP: rs137853299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382686 SCV001581586 pathogenic not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 191 of the TIMP3 protein (p.Tyr191Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Sorsby fundus dystrophy (PMID: 7894485, 27601084). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 12677). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013514 SCV000033761 pathogenic Sorsby fundus dystrophy 1994-12-01 no assertion criteria provided literature only

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