ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5852A>C (p.His1951Pro)

gnomAD frequency: 0.00001  dbSNP: rs1164569755
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773833 SCV000907533 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773833 SCV001186641 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-10 criteria provided, single submitter clinical testing The p.H1951P variant (also known as c.5852A>C), located in coding exon 38 of the ATM gene, results from an A to C substitution at nucleotide position 5852. The histidine at codon 1951 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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 RCV001830666 SCV002189754 uncertain significance Ataxia-telangiectasia syndrome 2023-10-12 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 1951 of the ATM protein (p.His1951Pro). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 629143). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001830666 SCV002077359 uncertain significance Ataxia-telangiectasia syndrome 2020-07-22 no assertion criteria provided clinical testing

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