ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.1258C>G (p.Leu420Val)

gnomAD frequency: 0.00016  dbSNP: rs377186178
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001927485 SCV002158768 uncertain significance not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 420 of the ATR protein (p.Leu420Val). This variant is present in population databases (rs377186178, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ATR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1394841). 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. 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.
GeneDx RCV001927485 SCV002576877 uncertain significance not provided 2022-03-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002425192 SCV002681290 uncertain significance Inborn genetic diseases 2022-09-11 criteria provided, single submitter clinical testing The p.L420V variant (also known as c.1258C>G), located in coding exon 5 of the ATR gene, results from a C to G substitution at nucleotide position 1258. The leucine at codon 420 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Genome-Nilou Lab RCV003125959 SCV003801904 uncertain significance Seckel syndrome 1 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003125960 SCV003801906 uncertain significance Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing

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