ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1723C>T (p.Arg575Cys)

gnomAD frequency: 0.00001  dbSNP: rs1212597027
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525709 SCV000647109 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2023-07-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 575 of the ADAMTS2 protein (p.Arg575Cys). This variant is present in population databases (no rsID available, gnomAD 0.005%). 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: 469666). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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. RCV000525709 SCV002081952 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-07-10 no assertion criteria provided clinical testing

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