ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3151G>A (p.Asp1051Asn)

gnomAD frequency: 0.00001  dbSNP: rs1252240288
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589491 SCV001815038 uncertain significance not provided 2021-09-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001836459 SCV002156022 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1051 of the ADAMTS2 protein (p.Asp1051Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001836459 SCV002081894 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-12-28 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001836459 SCV004228736 not provided Ehlers-Danlos syndrome, dermatosparaxis type no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 07-12-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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