ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2414C>T (p.Thr805Met)

gnomAD frequency: 0.00001  dbSNP: rs370350117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646234 SCV000767996 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-07-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 805 of the ADAMTS2 protein (p.Thr805Met). This variant is present in population databases (rs370350117, 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: 537396). 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.
GeneDx RCV002266996 SCV002549542 uncertain significance not provided 2022-01-12 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 has a deleterious effect on protein structure/function
Natera, Inc. RCV000646234 SCV002081930 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-28 no assertion criteria provided clinical testing

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