ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1679A>G (p.Glu560Gly)

dbSNP: rs762476611
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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 RCV001910004 SCV002186070 uncertain significance Ataxia-telangiectasia syndrome 2024-09-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 560 of the ATM protein (p.Glu560Gly). This variant is present in population databases (rs762476611, gnomAD 0.0009%). 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: 1408506). 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.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV004809695 SCV005431468 uncertain significance Familial cancer of breast; Ataxia-telangiectasia syndrome 2024-12-04 criteria provided, single submitter clinical testing The following ACMG criteria is used: PM2_Supporting (not reported in gnomAD); BP4 (Revel score 0.179)
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005232713 SCV005872592 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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