ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.686T>C (p.Leu229Pro)

dbSNP: rs1591503381
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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 RCV001025752 SCV001188002 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-07 criteria provided, single submitter clinical testing The p.L229P variant (also known as c.686T>C), located in coding exon 6 of the ATM gene, results from a T to C substitution at nucleotide position 686. The leucine at codon 229 is replaced by proline, an amino acid with similar properties. This amino acid position is well 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.
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030517 SCV001193465 uncertain significance Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002479220 SCV002774792 uncertain significance not provided 2021-08-02 criteria provided, single submitter clinical testing

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