ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4259T>C (p.Leu1420Pro)

dbSNP: rs1591662657
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022158 SCV001183858 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-07 criteria provided, single submitter clinical testing The p.L1420P variant (also known as c.4259T>C), located in coding exon 28 of the ATM gene, results from a T to C substitution at nucleotide position 4259. The leucine at codon 1420 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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.

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