ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.9113A>T (p.Gln3038Leu) (rs1131691391)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579589 SCV000682539 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-04 criteria provided, single submitter clinical testing
GeneDx RCV000493305 SCV000582031 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing This variant is denoted ATM c.9113A>T at the cDNA level, p.Gln3038Leu (Q3038L) at the protein level, and results in the change of a Glutamine to a Leucine (CAG>CTG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Gln3038Leu was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Glutamine and Leucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. ATM Gln3038Leu occurs at a position that is conserved across species and is located in the FATC domain (Stracker 2013). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether ATM Gln3038Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000796816 SCV000936344 uncertain significance Ataxia-telangiectasia syndrome 2018-11-14 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 3038 of the ATM protein (p.Gln3038Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 429453). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.

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