ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2050C>G (p.Gln684Glu)

gnomAD frequency: 0.00001  dbSNP: rs1060501691
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476849 SCV000547108 uncertain significance Ataxia-telangiectasia syndrome 2022-07-30 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. ClinVar contains an entry for this variant (Variation ID: 407706). 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 glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 684 of the ATM protein (p.Gln684Glu).
Ambry Genetics RCV001014204 SCV001174886 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-12 criteria provided, single submitter clinical testing The p.Q684E variant (also known as c.2050C>G), located in coding exon 12 of the ATM gene, results from a C to G substitution at nucleotide position 2050. The glutamine at codon 684 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, 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.
Baylor Genetics RCV003470441 SCV004210058 uncertain significance Familial cancer of breast 2023-08-09 criteria provided, single submitter clinical testing

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