ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7630C>G (p.Leu2544Val)

dbSNP: rs1555124455
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563775 SCV000665507 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-04 criteria provided, single submitter clinical testing The p.L2544V variant (also known as c.7630C>G) is located in coding exon 51 of the ATM gene. The leucine at codon 2544 is replaced by valine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 51. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002060422 SCV002496267 uncertain significance not provided 2024-03-11 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: 23532176)
Baylor Genetics RCV003465188 SCV004210041 uncertain significance Familial cancer of breast 2023-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003605640 SCV004471415 uncertain significance Ataxia-telangiectasia syndrome 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2544 of the ATM protein (p.Leu2544Val). 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: 481231). 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.

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