ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3337C>T (p.His1113Tyr)

gnomAD frequency: 0.00002  dbSNP: rs372096858
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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 RCV001069918 SCV001235116 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1113 of the ADAMTS2 protein (p.His1113Tyr). This variant is present in population databases (rs372096858, gnomAD 0.004%). 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: 863049). 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. 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 RCV004794486 SCV005415374 uncertain significance not provided 2024-05-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001069918 SCV002081887 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-11-23 no assertion criteria provided clinical testing

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