ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2794C>T (p.Arg932Trp)

gnomAD frequency: 0.00001  dbSNP: rs776975672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212667 SCV001384259 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 932 of the ADAMTS2 protein (p.Arg932Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs776975672, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. 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: "Benign"; Align-GVGD: "Class C35"). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004792803 SCV005411960 uncertain significance not provided 2023-10-31 criteria provided, single submitter clinical testing BP4
Natera, Inc. RCV001212667 SCV002081916 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-03-15 no assertion criteria provided clinical testing

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