ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3608G>A (p.Arg1203Gln)

gnomAD frequency: 0.00001  dbSNP: rs772059202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689330 SCV000816975 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1203 of the ADAMTS2 protein (p.Arg1203Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs772059202, ExAC 0.001%). 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: 568847). 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 glutamine 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. RCV000689330 SCV002081875 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-28 no assertion criteria provided clinical testing

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