ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.9094G>C (p.Val3032Leu) (rs587779877)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115275 SCV000149184 uncertain significance not provided 2018-02-21 criteria provided, single submitter clinical testing This variant is denoted ATM c.9094G>C at the cDNA level, p.Val3032Leu (V3032L) at the protein level, and results in the change of a Valine to a Leucine (GTG>CTG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Val3032Leu was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the FATC domain (Stracker 2013). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether ATM Val3032Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000533885 SCV000622885 uncertain significance Ataxia-telangiectasia syndrome 2018-10-02 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 3032 of the ATM protein (p.Val3032Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs587779877, ExAC 0.02%). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 127469). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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