ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3841A>C (p.Ser1281Arg)

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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 RCV002355447 SCV002623582 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-04 criteria provided, single submitter clinical testing The p.S1281R variant (also known as c.3841A>C), located in coding exon 25 of the ATM gene, results from an A to C substitution at nucleotide position 3841. The serine at codon 1281 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV003464458 SCV004206300 uncertain significance Familial cancer of breast 2023-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003605796 SCV004516938 uncertain significance Ataxia-telangiectasia syndrome 2024-01-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1281 of the ATM protein (p.Ser1281Arg). 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: 1735442). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine 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.

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