ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1826A>T (p.Glu609Val)

dbSNP: rs2080227710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183161 SCV001348818 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-10 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with valine at codon 609 of the ATM protein. Computational prediction tool suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold ≤0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001373844 SCV001570576 uncertain significance Ataxia-telangiectasia syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 609 of the ATM protein (p.Glu609Val). The glutamic acid residue is weakly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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