ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2719G>A (p.Ala907Thr)

gnomAD frequency: 0.00001  dbSNP: rs199617528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242341 SCV001415422 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-12-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 907 of the ADAMTS2 protein (p.Ala907Thr). This variant is present in population databases (rs199617528, gnomAD 0.09%). 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: 967430). 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 threonine 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.
GeneDx RCV001586084 SCV001820225 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002564024 SCV003747769 uncertain significance Inborn genetic diseases 2022-05-18 criteria provided, single submitter clinical testing The c.2719G>A (p.A907T) alteration is located in exon 18 (coding exon 18) of the ADAMTS2 gene. This alteration results from a G to A substitution at nucleotide position 2719, causing the alanine (A) at amino acid position 907 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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