ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2331A>T (p.Arg777Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003029068 SCV003315602 uncertain significance Ataxia-telangiectasia syndrome 2023-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 777 of the ATM protein (p.Arg777Ser). 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: 2104010). 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.
Ambry Genetics RCV004681602 SCV005175378 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-20 criteria provided, single submitter clinical testing The p.R777S variant (also known as c.2331A>T), located in coding exon 14 of the ATM gene, results from an A to T substitution at nucleotide position 2331. The arginine at codon 777 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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