ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5107T>C (p.Phe1703Leu)

dbSNP: rs1591702635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023554 SCV001185453 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-27 criteria provided, single submitter clinical testing The p.F1703L variant (also known as c.5107T>C), located in coding exon 33 of the ATM gene, results from a T to C substitution at nucleotide position 5107. The phenylalanine at codon 1703 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well 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.
Invitae RCV001873374 SCV002171713 uncertain significance Ataxia-telangiectasia syndrome 2023-03-23 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. 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: 825452). 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 phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1703 of the ATM protein (p.Phe1703Leu).

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