ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8950C>G (p.Leu2984Val)

dbSNP: rs747445236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018528 SCV001179777 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-16 criteria provided, single submitter clinical testing The p.L2984V variant (also known as c.8950C>G), located in coding exon 61 of the ATM gene, results from a C to G substitution at nucleotide position 8950. The leucine at codon 2984 is replaced by valine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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 RCV001873309 SCV002114600 uncertain significance Ataxia-telangiectasia syndrome 2022-11-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 822831). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2984 of the ATM protein (p.Leu2984Val).
Fulgent Genetics, Fulgent Genetics RCV002505545 SCV002812213 uncertain significance Familial cancer of breast; Ataxia-telangiectasia syndrome 2021-07-26 criteria provided, single submitter clinical testing

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