ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn)

gnomAD frequency: 0.00018  dbSNP: rs374717566
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792686 SCV000931996 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-07-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 264 of the ADAMTS2 protein (p.Asp264Asn). This variant is present in population databases (rs374717566, gnomAD 0.03%). 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: 639787). 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 tolerated. 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.
GeneDx RCV001552500 SCV001773197 uncertain significance not provided 2023-09-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002536947 SCV003706020 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.790G>A (p.D264N) alteration is located in exon 4 (coding exon 4) of the ADAMTS2 gene. This alteration results from a G to A substitution at nucleotide position 790, causing the aspartic acid (D) at amino acid position 264 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001552500 SCV004227171 uncertain significance not provided 2022-03-29 criteria provided, single submitter clinical testing BP4
Natera, Inc. RCV000792686 SCV001458877 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-04-20 no assertion criteria provided clinical testing

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