ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6112C>A (p.His2038Asn)

dbSNP: rs1060501643
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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 RCV000470494 SCV000546967 uncertain significance Ataxia-telangiectasia syndrome 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 2038 of the ATM protein (p.His2038Asn). 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: 407634). 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 disruptive. 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.
GeneDx RCV001563089 SCV001785969 uncertain significance not provided 2020-02-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
MGZ Medical Genetics Center RCV000470494 SCV002580008 uncertain significance Ataxia-telangiectasia syndrome 2021-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356672 SCV002661094 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-29 criteria provided, single submitter clinical testing The p.H2038N variant (also known as c.6112C>A), located in coding exon 41 of the ATM gene, results from a C to A substitution at nucleotide position 6112. The histidine at codon 2038 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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