ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4849C>G (p.Leu1617Val)

gnomAD frequency: 0.00001  dbSNP: rs1006483748
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581505 SCV000687576 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces leucine with valine at codon 1617 of the ATM protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with ATM-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001041681 SCV001205308 uncertain significance Ataxia-telangiectasia syndrome 2022-11-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 490585). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1617 of the ATM protein (p.Leu1617Val).
Ambry Genetics RCV000581505 SCV004007323 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-02 criteria provided, single submitter clinical testing The p.L1617V variant (also known as c.4849C>G), located in coding exon 31 of the ATM gene, results from a C to G substitution at nucleotide position 4849. The leucine at codon 1617 is replaced by valine, an amino acid with highly similar properties. 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.

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