ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1741G>A (p.Val581Met)

gnomAD frequency: 0.00001  dbSNP: rs778993977
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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 RCV002016461 SCV002303065 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 581 of the ADAMTS2 protein (p.Val581Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs778993977, ExAC 0.01%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with ADAMTS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV004976152 SCV005557667 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The c.1741G>A (p.V581M) alteration is located in exon 11 (coding exon 11) of the ADAMTS2 gene. This alteration results from a G to A substitution at nucleotide position 1741, causing the valine (V) at amino acid position 581 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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