ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1909G>A (p.Gly637Ser)

gnomAD frequency: 0.00010  dbSNP: rs201864255
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805621 SCV000945584 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 637 of the ADAMTS2 protein (p.Gly637Ser). This variant is present in population databases (rs201864255, 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: 650462). 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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
GeneDx RCV001565363 SCV001788697 uncertain significance not provided 2020-11-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001565363 SCV005411966 uncertain significance not provided 2024-03-27 criteria provided, single submitter clinical testing BP4
Natera, Inc. RCV000805621 SCV001457884 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-09-16 no assertion criteria provided clinical testing

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