ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1758G>T (p.Glu586Asp)

dbSNP: rs1555072017
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013047 SCV001173581 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-13 criteria provided, single submitter clinical testing The p.E586D variant (also known as c.1758G>T), located in coding exon 10 of the ATM gene, results from a G to T substitution at nucleotide position 1758. The glutamic acid at codon 586 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly 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.
Invitae RCV001321608 SCV001512445 uncertain significance Ataxia-telangiectasia syndrome 2023-11-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 586 of the ATM protein (p.Glu586Asp). 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: 820026). 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.
Sema4, Sema4 RCV001013047 SCV002533331 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-06 criteria provided, single submitter curation
Baylor Genetics RCV003467607 SCV004211996 uncertain significance Familial cancer of breast 2023-05-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001321608 SCV002083801 uncertain significance Ataxia-telangiectasia syndrome 2021-01-09 no assertion criteria provided clinical testing

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