ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4579C>G (p.Leu1527Val)

dbSNP: rs1555099997
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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 RCV000564173 SCV000668046 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-16 criteria provided, single submitter clinical testing The p.L1527V variant (also known as c.4579C>G), located in coding exon 29 of the ATM gene, results from a C to G substitution at nucleotide position 4579. The leucine at codon 1527 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002528099 SCV003207912 uncertain significance Ataxia-telangiectasia syndrome 2022-06-01 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATM protein function. ClinVar contains an entry for this variant (Variation ID: 482679). 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 leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1527 of the ATM protein (p.Leu1527Val).
Baylor Genetics RCV003465227 SCV004210179 uncertain significance Familial cancer of breast 2023-07-11 criteria provided, single submitter clinical testing

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