ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3606G>A (p.Met1202Ile)

gnomAD frequency: 0.00001  dbSNP: rs1278681689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701523 SCV000830326 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 1202 of the ADAMTS2 protein (p.Met1202Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. 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 isoleucine 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. RCV000701523 SCV002081876 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-28 no assertion criteria provided clinical testing

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