ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1030C>T (p.Arg344Cys)

gnomAD frequency: 0.00003  dbSNP: rs751283120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703604 SCV000832512 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-11-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 344 of the ADAMTS2 protein (p.Arg344Cys). This variant is present in population databases (rs751283120, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 580145). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV001508535 SCV001714755 uncertain significance not provided 2019-05-26 criteria provided, single submitter clinical testing
GeneDx RCV001508535 SCV004030848 uncertain significance not provided 2023-02-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000703604 SCV002084200 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-28 no assertion criteria provided clinical testing

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