ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3511C>G (p.Gln1171Glu)

dbSNP: rs876659067
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001304654 SCV001493947 uncertain significance Ataxia-telangiectasia syndrome 2023-01-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 1171 of the ATM protein (p.Gln1171Glu). 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: 1007468). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
GeneDx RCV001664815 SCV001874876 uncertain significance not provided 2021-08-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19781682)
Fulgent Genetics, Fulgent Genetics RCV005040154 SCV005681265 uncertain significance Familial cancer of breast; Ataxia-telangiectasia syndrome 2024-02-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001304654 SCV002080485 uncertain significance Ataxia-telangiectasia syndrome 2021-06-24 no assertion criteria provided clinical testing

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