ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3360T>G (p.Phe1120Leu)

dbSNP: rs2082121277
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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 RCV001065042 SCV001229980 uncertain significance Ataxia-telangiectasia syndrome 2022-05-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1120 of the ATM protein (p.Phe1120Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 859030). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATM protein function. 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 RCV004030567 SCV005037971 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-10 criteria provided, single submitter clinical testing The p.F1120L variant (also known as c.3360T>G), located in coding exon 22 of the ATM gene, results from a T to G substitution at nucleotide position 3360. The phenylalanine at codon 1120 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004570275 SCV005057153 uncertain significance Familial cancer of breast 2023-12-12 criteria provided, single submitter clinical testing

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