ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2884G>A (p.Ala962Thr)

gnomAD frequency: 0.00002  dbSNP: rs773669935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242584 SCV001415680 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-05-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 962 of the ADAMTS2 protein (p.Ala962Thr). This variant is present in population databases (rs773669935, gnomAD 0.003%). 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: 967624). 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.
Natera, Inc. RCV001242584 SCV002081909 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-10-14 no assertion criteria provided clinical testing

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