ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2944G>A (p.Gly982Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002876731 SCV003240700 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 982 of the ADAMTS2 protein (p.Gly982Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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 (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 RCV002876732 SCV003658365 uncertain significance Inborn genetic diseases 2022-11-01 criteria provided, single submitter clinical testing The c.2944G>A (p.G982R) alteration is located in exon 19 (coding exon 19) of the ADAMTS2 gene. This alteration results from a G to A substitution at nucleotide position 2944, causing the glycine (G) at amino acid position 982 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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