ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.805C>T (p.His269Tyr)

dbSNP: rs1591504278
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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 RCV001027125 SCV001189631 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-22 criteria provided, single submitter clinical testing The p.H269Y variant (also known as c.805C>T), located in coding exon 6 of the ATM gene, results from a C to T substitution at nucleotide position 805. The histidine at codon 269 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is not 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862398 SCV002278109 uncertain significance Ataxia-telangiectasia syndrome 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 269 of the ATM protein (p.His269Tyr). 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: 827428). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509593 SCV002819417 uncertain significance not specified 2022-12-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV004570080 SCV005056952 uncertain significance Familial cancer of breast 2024-02-22 criteria provided, single submitter clinical testing

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