ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1126G>A (p.Glu376Lys)

dbSNP: rs1555069657
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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 RCV001009939 SCV001170068 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-06 criteria provided, single submitter clinical testing The p.E376K variant (also known as c.1126G>A), located in coding exon 8 of the ATM gene, results from a G to A substitution at nucleotide position 1126. The glutamic acid at codon 376 is replaced by lysine, 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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