ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5593C>A (p.His1865Asn)

dbSNP: rs567908537
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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 RCV001917162 SCV002150398 uncertain significance Ataxia-telangiectasia syndrome 2022-02-20 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. 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. 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 histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1865 of the ATM protein (p.His1865Asn).
Sema4, Sema4 RCV002255695 SCV002528587 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-27 criteria provided, single submitter curation
Ambry Genetics RCV002255695 SCV002648827 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-04 criteria provided, single submitter clinical testing The p.H1865N variant (also known as c.5593C>A), located in coding exon 36 of the ATM gene, results from a C to A substitution at nucleotide position 5593. The histidine at codon 1865 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. 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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