ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.789C>G (p.Asp263Glu)

dbSNP: rs144235544
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210597 SCV001382093 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 263 of the ADAMTS2 protein (p.Asp263Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001210597 SCV002084209 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-08-30 no assertion criteria provided clinical testing

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