ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu)

gnomAD frequency: 0.00001  dbSNP: rs765027485
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221888 SCV000273185 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-21 criteria provided, single submitter clinical testing The p.K1903E variant (also known as c.5707A>G), located in coding exon 37 of the ATM gene, results from an A to G substitution at nucleotide position 5707. The lysine at codon 1903 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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 RCV000468754 SCV000546955 uncertain significance Ataxia-telangiectasia syndrome 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1903 of the ATM protein (p.Lys1903Glu). This variant is present in population databases (rs765027485, gnomAD 0.007%). 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: 229836). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Sema4, Sema4 RCV000221888 SCV002529135 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-27 criteria provided, single submitter curation
GeneDx RCV002259323 SCV002538919 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002485414 SCV002780984 uncertain significance Familial cancer of breast; Ataxia-telangiectasia syndrome 2022-05-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230456 SCV003929136 uncertain significance not specified 2023-04-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000468754 SCV002077237 uncertain significance Ataxia-telangiectasia syndrome 2020-10-22 no assertion criteria provided clinical testing

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