ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1526G>A (p.Gly509Glu)

dbSNP: rs1591524556
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012018 SCV001172417 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-05 criteria provided, single submitter clinical testing The p.G509E variant (also known as c.1526G>A), located in coding exon 9 of the ATM gene, results from a G to A substitution at nucleotide position 1526. The glycine at codon 509 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not 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.
Color Diagnostics, LLC DBA Color Health RCV001012018 SCV001340373 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-16 criteria provided, single submitter clinical testing

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