ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2411T>G (p.Leu804Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003493312 SCV004240436 uncertain significance Breast and/or ovarian cancer 2023-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004673902 SCV005168090 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-11 criteria provided, single submitter clinical testing The p.L804R variant (also known as c.2411T>G), located in coding exon 15 of the ATM gene, results from a T to G substitution at nucleotide position 2411. The leucine at codon 804 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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