ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3028G>A (p.Gly1010Ser)

gnomAD frequency: 0.00015  dbSNP: rs368690576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507663 SCV001713349 uncertain significance not provided 2021-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506587 SCV002797597 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002506587 SCV003246754 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1010 of the ADAMTS2 protein (p.Gly1010Ser). This variant is present in population databases (rs368690576, gnomAD 0.02%). 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: 1162984). 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.

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