ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.731G>A (p.Gly244Asp)

gnomAD frequency: 0.00002  dbSNP: rs769174562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002273556 SCV002558396 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277628 SCV002565990 uncertain significance Ehlers-Danlos syndrome 2020-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101553 SCV003255919 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-07-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 244 of the ADAMTS2 protein (p.Gly244Asp). This variant is present in population databases (rs769174562, gnomAD 0.003%). 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 C15"). 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.

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