ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2840A>G (p.His947Arg)

dbSNP: rs1762831111
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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 RCV001326345 SCV001517373 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-02-03 criteria provided, single submitter clinical testing 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. 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 C25"). This variant has not been reported in the literature in individuals with ADAMTS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 947 of the ADAMTS2 protein (p.His947Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.

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