ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5503A>G (p.Thr1835Ala)

gnomAD frequency: 0.00001  dbSNP: rs1034908940
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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 RCV001294863 SCV001483758 uncertain significance Ataxia-telangiectasia syndrome 2023-05-09 criteria provided, single submitter clinical testing 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: 998937). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1835 of the ATM protein (p.Thr1835Ala).
GeneDx RCV001773599 SCV002003087 uncertain significance not provided 2020-02-06 criteria provided, single submitter clinical testing 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
Ambry Genetics RCV002350510 SCV002648653 likely benign Hereditary cancer-predisposing syndrome 2023-12-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001294863 SCV002084241 uncertain significance Ataxia-telangiectasia syndrome 2021-02-23 no assertion criteria provided clinical testing

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