ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8810T>A (p.Val2937Glu)

dbSNP: rs587782149
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132413 SCV000187505 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-21 criteria provided, single submitter clinical testing The p.V2937E variant (also known as c.8810T>A), located in coding exon 60 of the ATM gene, results from a T to A substitution at nucleotide position 8810. The valine at codon 2937 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000628128 SCV000749021 uncertain significance Ataxia-telangiectasia syndrome 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 2937 of the ATM protein (p.Val2937Glu). 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: 142933). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Color Diagnostics, LLC DBA Color Health RCV000132413 SCV000905057 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467195 SCV004207066 uncertain significance Familial cancer of breast 2023-10-04 criteria provided, single submitter clinical testing

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