ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.9145T>C (p.Phe3049Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002378778 SCV002686103 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-15 criteria provided, single submitter clinical testing The p.F3049L variant (also known as c.9145T>C), located in coding exon 62 of the ATM gene, results from a T to C substitution at nucleotide position 9145. The phenylalanine at codon 3049 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. 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 RCV003605835 SCV004461927 uncertain significance Ataxia-telangiectasia syndrome 2023-04-28 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. 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. ClinVar contains an entry for this variant (Variation ID: 1765949). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3049 of the ATM protein (p.Phe3049Leu).

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