ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.439C>G (p.Arg147Gly)

dbSNP: rs1757854963
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061076 SCV001225807 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-11-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 147 of the ADAMTS2 protein (p.Arg147Gly). This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 855745).

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