ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3904G>A (p.Gly1302Ser)

dbSNP: rs2135707999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258602 SCV002536651 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-28 criteria provided, single submitter curation
Ambry Genetics RCV002258602 SCV002623939 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-19 criteria provided, single submitter clinical testing The p.G1302S variant (also known as c.3904G>A), located in coding exon 25 of the ATM gene, results from a G to A substitution at nucleotide position 3904. The glycine at codon 1302 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094246 SCV003017169 uncertain significance Ataxia-telangiectasia syndrome 2023-06-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1692682). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1302 of the ATM protein (p.Gly1302Ser).

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