ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4A>G (p.Ser2Gly)

dbSNP: rs1591445677
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793955 SCV000933336 uncertain significance Ataxia-telangiectasia syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 2 of the ATM protein (p.Ser2Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV003166110 SCV003866577 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-30 criteria provided, single submitter clinical testing The p.S2G variant (also known as c.4A>G), located in coding exon 1 of the ATM gene, results from an A to G substitution at nucleotide position 4. The serine at codon 2 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 RCV004569524 SCV005056969 uncertain significance Familial cancer of breast 2024-02-19 criteria provided, single submitter clinical testing

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