ClinVar Miner

Submissions for variant NM_000362.5(TIMP3):c.484G>T (p.Glu162Ter)

dbSNP: rs137853302
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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 RCV001857342 SCV002300208 uncertain significance not provided 2025-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu162*) in the TIMP3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 50 amino acid(s) of the TIMP3 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Sorsby fundus dystrophy (PMID: 10854443). It has also been observed to segregate with disease in related individuals. This variant is also known as E139X. ClinVar contains an entry for this variant (Variation ID: 12680). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects TIMP3 function (PMID: 10854443). 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.
OMIM RCV000013517 SCV000033764 pathogenic Sorsby fundus dystrophy 2000-09-01 no assertion criteria provided literature only

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