ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu)

gnomAD frequency: 0.00001  dbSNP: rs1060501652
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461483 SCV000546994 uncertain significance Ataxia-telangiectasia syndrome 2023-12-29 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 1972 of the ATM protein (p.Lys1972Glu). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 407647). 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 tolerated. 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 RCV000574705 SCV000660646 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-27 criteria provided, single submitter clinical testing The p.K1972E variant (also known as c.5914A>G), located in coding exon 38 of the ATM gene, results from an A to G substitution at nucleotide position 5914. The lysine at codon 1972 is replaced by glutamic acid, an amino acid with similar 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587661 SCV000694310 uncertain significance not specified 2024-03-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000587661 SCV002064559 uncertain significance not specified 2019-06-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568002 SCV005056931 uncertain significance Familial cancer of breast 2024-02-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000461483 SCV002075485 uncertain significance Ataxia-telangiectasia syndrome 2020-10-30 no assertion criteria provided clinical testing

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