ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1427C>T (p.Pro476Leu)

gnomAD frequency: 0.00001  dbSNP: rs762123346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544578 SCV000647102 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 476 of the ADAMTS2 protein (p.Pro476Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs762123346, ExAC 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 (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.
Natera, Inc. RCV000544578 SCV002084192 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-28 no assertion criteria provided clinical testing

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