ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2906T>C (p.Leu969Pro)

dbSNP: rs1591602563
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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 RCV001016901 SCV001177906 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-05 criteria provided, single submitter clinical testing The p.L969P variant (also known as c.2906T>C), located in coding exon 18 of the ATM gene, results from a T to C substitution at nucleotide position 2906. The leucine at codon 969 is replaced by proline, an amino acid with similar properties. This amino acid position is highly 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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