ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.709G>T (p.Asp237Tyr)

gnomAD frequency: 0.00008  dbSNP: rs768334305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241553 SCV001414579 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 237 of the ADAMTS2 protein (p.Asp237Tyr). This variant is present in population databases (rs768334305, gnomAD 0.1%). 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: 966792). 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: "Benign"; Align-GVGD: "Class C65"). 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.
Ambry Genetics RCV004963281 SCV005557558 uncertain significance Inborn genetic diseases 2024-08-14 criteria provided, single submitter clinical testing The c.709G>T (p.D237Y) alteration is located in exon 4 (coding exon 4) of the ADAMTS2 gene. This alteration results from a G to T substitution at nucleotide position 709, causing the aspartic acid (D) at amino acid position 237 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001241553 SCV002084218 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-01-20 no assertion criteria provided clinical testing

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