ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)

gnomAD frequency: 0.00007  dbSNP: rs150047440
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685941 SCV000813442 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 87 of the ADAMTS2 protein (p.Arg87Leu). This variant is present in population databases (rs150047440, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. 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: 566194). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Eurofins Ntd Llc (ga) RCV000729774 SCV000857463 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing
GeneDx RCV000729774 SCV001801854 likely benign not provided 2019-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547092 SCV003719422 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.260G>T (p.R87L) alteration is located in exon 2 (coding exon 2) of the ADAMTS2 gene. This alteration results from a G to T substitution at nucleotide position 260, causing the arginine (R) at amino acid position 87 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000685941 SCV001465390 benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-09-03 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003945708 SCV004763554 uncertain significance ADAMTS2-related disorder 2023-10-18 no assertion criteria provided clinical testing The ADAMTS2 c.260G>T variant is predicted to result in the amino acid substitution p.Arg87Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.044% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-178771042-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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