ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.635T>C (p.Phe212Ser)

dbSNP: rs1591500544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025177 SCV001187315 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-18 criteria provided, single submitter clinical testing The p.F212S variant (also known as c.635T>C), located in coding exon 5 of the ATM gene, results from a T to C substitution at nucleotide position 635. The phenylalanine at codon 212 is replaced by serine, an amino acid with highly dissimilar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002550908 SCV003510404 uncertain significance Ataxia-telangiectasia syndrome 2022-12-02 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55". 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: 826349). 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 phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 212 of the ATM protein (p.Phe212Ser).
Baylor Genetics RCV003467684 SCV004210145 uncertain significance Familial cancer of breast 2023-07-19 criteria provided, single submitter clinical testing

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