ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1295T>G (p.Leu432Arg)

dbSNP: rs546621356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192365 SCV001360419 uncertain significance not specified 2019-05-17 criteria provided, single submitter clinical testing Variant summary: ATM c.1295T>G (p.Leu432Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250832 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1295T>G in individuals affected with Ataxia-Telangiectasia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV001372688 SCV001569368 uncertain significance Ataxia-telangiectasia syndrome 2020-03-19 criteria provided, single submitter clinical testing 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. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with ATM-related conditions. This sequence change replaces leucine with arginine at codon 432 of the ATM protein (p.Leu432Arg). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and arginine.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002480640 SCV002774783 uncertain significance not provided 2021-06-23 criteria provided, single submitter clinical testing

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