ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5527C>G (p.Pro1843Ala)

dbSNP: rs1060501607
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000467984 SCV000546869 uncertain significance Ataxia-telangiectasia syndrome 2023-08-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1843 of the ATM protein (p.Pro1843Ala). 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. 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. ClinVar contains an entry for this variant (Variation ID: 407569). 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).
Ambry Genetics RCV001024226 SCV001186208 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-19 criteria provided, single submitter clinical testing The p.P1843A variant (also known as c.5527C>G), located in coding exon 36 of the ATM gene, results from a C to G substitution at nucleotide position 5527. The proline at codon 1843 is replaced by alanine, an amino acid with highly 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.
Color Diagnostics, LLC DBA Color Health RCV001024226 SCV001349188 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-25 criteria provided, single submitter clinical testing This missense variant replaces proline with alanine at codon 1843 of the ATM protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
MGZ Medical Genetics Center RCV002289609 SCV002580143 uncertain significance Familial cancer of breast 2022-07-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000467984 SCV002084252 uncertain significance Ataxia-telangiectasia syndrome 2021-05-25 no assertion criteria provided clinical testing

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