ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4207A>G (p.Ser1403Gly)

dbSNP: rs768726324
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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 RCV001022053 SCV001183743 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-29 criteria provided, single submitter clinical testing The p.S1403G variant (also known as c.4207A>G), located in coding exon 27 of the ATM gene, results from an A to G substitution at nucleotide position 4207. The serine at codon 1403 is replaced by glycine, an amino acid with similar properties. This amino acid position is 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.
Baylor Genetics RCV001328965 SCV001520232 uncertain significance Familial cancer of breast 2020-06-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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