ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.877A>G (p.Lys293Glu)

dbSNP: rs1057516442
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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 RCV001018311 SCV001179533 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-05 criteria provided, single submitter clinical testing The p.K293E variant (also known as c.877A>G), located in coding exon 6 of the ATM gene, results from an A to G substitution at nucleotide position 877. The lysine at codon 293 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.

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