ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1684G>A (p.Gly562Ser)

gnomAD frequency: 0.00002  dbSNP: rs757782312
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001596460 SCV001830802 uncertain significance not provided 2021-03-01 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 a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001827546 SCV002996050 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-05-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 562 of the ADAMTS2 protein (p.Gly562Ser). This variant is present in population databases (rs757782312, gnomAD 0.007%). 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: 1223666). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001596460 SCV005411968 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980612 SCV005557526 uncertain significance Inborn genetic diseases 2024-08-26 criteria provided, single submitter clinical testing The c.1684G>A (p.G562S) 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 1684, causing the glycine (G) at amino acid position 562 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001827546 SCV002081954 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-11-03 no assertion criteria provided clinical testing

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