ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2858A>G (p.Glu953Gly)

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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 RCV002435434 SCV002748196 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-14 criteria provided, single submitter clinical testing The p.E953G variant (also known as c.2858A>G), located in coding exon 18 of the ATM gene, results from an A to G substitution at nucleotide position 2858. The glutamic acid at codon 953 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV003465765 SCV004210315 uncertain significance Familial cancer of breast 2023-06-02 criteria provided, single submitter clinical testing

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