ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1136A>T (p.Tyr379Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002839052 SCV003218084 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-06-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 379 of the ADAMTS2 protein (p.Tyr379Phe). This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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