ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1519C>T (p.Arg507Trp)

gnomAD frequency: 0.00004  dbSNP: rs201393333
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508534 SCV001714754 uncertain significance not provided 2020-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002564250 SCV003005963 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 507 of the ADAMTS2 protein (p.Arg507Trp). This variant is present in population databases (rs201393333, gnomAD 0.006%). 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: 1163454). 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.
Ambry Genetics RCV004037890 SCV004852423 uncertain significance Inborn genetic diseases 2023-09-22 criteria provided, single submitter clinical testing The c.1519C>T (p.R507W) alteration is located in exon 10 (coding exon 10) of the ADAMTS2 gene. This alteration results from a C to T substitution at nucleotide position 1519, causing the arginine (R) at amino acid position 507 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001508534 SCV005080668 uncertain significance not provided 2024-05-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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