ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3502T>C (p.Cys1168Arg)

gnomAD frequency: 0.00001  dbSNP: rs749933079
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219437 SCV000274607 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-05 criteria provided, single submitter clinical testing The p.C1168R variant (also known as c.3502T>C), located in coding exon 23 of the ATM gene, results from a T to C substitution at nucleotide position 3502. The cysteine at codon 1168 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000550846 SCV000622427 uncertain significance Ataxia-telangiectasia syndrome 2024-01-28 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 1168 of the ATM protein (p.Cys1168Arg). This variant is present in population databases (rs749933079, gnomAD 0.01%). 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: 230914). 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 disruptive. 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.
Color Diagnostics, LLC DBA Color Health RCV000219437 SCV000913924 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-07 criteria provided, single submitter clinical testing
GeneDx RCV003156235 SCV003845598 uncertain significance not provided 2023-03-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19781682)
Natera, Inc. RCV000550846 SCV002080474 uncertain significance Ataxia-telangiectasia syndrome 2020-02-10 no assertion criteria provided clinical testing

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