ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1369C>G (p.Arg457Gly) (rs749036865)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777656 SCV000913543 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-05 criteria provided, single submitter clinical testing
Invitae RCV000229490 SCV000282870 uncertain significance Ataxia-telangiectasia syndrome 2015-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 457 of the ATM protein (p.Arg457Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. While this variant is present in population databases (ExAC), the frequency information is unreliable due to low sequence quality at this site. This variant has not been published in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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