ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4816C>G (p.Leu1606Val)

gnomAD frequency: 0.00001  dbSNP: rs746103632
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556637 SCV000622532 uncertain significance Ataxia-telangiectasia syndrome 2023-08-04 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 453539). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs746103632, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1606 of the ATM protein (p.Leu1606Val).
Sema4, Sema4 RCV002256329 SCV002535410 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-06 criteria provided, single submitter curation
Ambry Genetics RCV002256329 SCV002635029 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-21 criteria provided, single submitter clinical testing The p.L1606V variant (also known as c.4816C>G), located in coding exon 31 of the ATM gene, results from a C to G substitution at nucleotide position 4816. The leucine at codon 1606 is replaced by valine, an amino acid with highly similar properties. This variant was observed in 1/3251 individuals who met eligibility criteria for hereditary breast and ovarian cancer syndrome. The individual was diagnosed with ovarian cancer at age 59 (Lerner-Ellis J et al. J Cancer Res Clin Oncol, 2021 Mar;147:871-879). This amino acid position is highly 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.
Natera, Inc. RCV000556637 SCV002075342 uncertain significance Ataxia-telangiectasia syndrome 2019-10-28 no assertion criteria provided clinical testing

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