ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1396C>G (p.Gln466Glu)

dbSNP: rs876660485
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561327 SCV000665461 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-09 criteria provided, single submitter clinical testing The p.Q466E variant (also known as c.1396C>G), located in coding exon 9 of the ATM gene, results from a C to G substitution at nucleotide position 1396. The glutamine at codon 466 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000561327 SCV000913017 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001340515 SCV001534331 uncertain significance Ataxia-telangiectasia syndrome 2022-02-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 466 of the ATM protein (p.Gln466Glu). 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: 481206). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATM protein function. 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.
Baylor Genetics RCV003465187 SCV004209516 uncertain significance Familial cancer of breast 2023-09-04 criteria provided, single submitter clinical testing

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