ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.482A>G (p.Gln161Arg)

dbSNP: rs587780625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023118 SCV001184945 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-07 criteria provided, single submitter clinical testing The p.Q161R variant (also known as c.482A>G), located in coding exon 4 of the ATM gene, results from an A to G substitution at nucleotide position 482. The glutamine at codon 161 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001340960 SCV001534795 uncertain significance Ataxia-telangiectasia syndrome 2023-07-08 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 161 of the ATM protein (p.Gln161Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 825212). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV003442149 SCV004170083 uncertain significance not provided 2023-10-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 35127508)

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