ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.599C>T (p.Ala200Val)

gnomAD frequency: 0.00005  dbSNP: rs749842975
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815629 SCV000956090 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 200 of the ADAMTS2 protein (p.Ala200Val). This variant is present in population databases (rs749842975, 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: 658747). 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.
GeneDx RCV001772111 SCV001992965 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000815629 SCV001462998 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-04-20 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000815629 SCV001749396 not provided Ehlers-Danlos syndrome, dermatosparaxis type no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-04-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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