ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2780G>A (p.Ser927Asn)

dbSNP: rs1193602528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523150 SCV000620257 uncertain significance not provided 2017-08-23 criteria provided, single submitter clinical testing The S927N variant in the ADAMTS2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S927N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S927N as a variant of uncertain significance.
Invitae RCV000817001 SCV000957537 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 927 of the ADAMTS2 protein (p.Ser927Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). 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: 451539). 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 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.
Natera, Inc. RCV000817001 SCV002081917 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-10-13 no assertion criteria provided clinical testing

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