ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5290C>G (p.Leu1764Val)

dbSNP: rs2083444552
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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 RCV001348851 SCV001543170 uncertain significance Ataxia-telangiectasia syndrome 2023-11-27 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 1764 of the ATM protein (p.Leu1764Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1044586). 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.
Color Diagnostics, LLC DBA Color Health RCV001524589 SCV001734485 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-08 criteria provided, single submitter clinical testing This missense variant replaces leucine with valine at codon 1764 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 hereditary cancer 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.
Baylor Genetics RCV004570848 SCV005057124 uncertain significance Familial cancer of breast 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001524589 SCV005168766 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-15 criteria provided, single submitter clinical testing The p.L1764V variant (also known as c.5290C>G), located in coding exon 34 of the ATM gene, results from a C to G substitution at nucleotide position 5290. The leucine at codon 1764 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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