ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser)

gnomAD frequency: 0.00013  dbSNP: rs149708395
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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 RCV000553670 SCV000647117 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-10-12 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 704 of the ADAMTS2 protein (p.Gly704Ser). This variant is present in population databases (rs149708395, gnomAD 0.2%). 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: 469669). 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 C55"). 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 RCV001786401 SCV002028479 uncertain significance not provided 2024-12-03 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 has a deleterious effect on protein structure/function; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Fulgent Genetics, Fulgent Genetics RCV000553670 SCV002784024 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-08-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001786401 SCV005188762 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000553670 SCV001457881 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-09-16 no assertion criteria provided clinical testing

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