ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4267T>A (p.Cys1423Ser)

dbSNP: rs587782442
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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 RCV000569210 SCV000668087 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-26 criteria provided, single submitter clinical testing The p.C1423S variant (also known as c.4267T>A), located in coding exon 28 of the ATM gene, results from a T to A substitution at nucleotide position 4267. The cysteine at codon 1423 is replaced by serine, an amino acid with dissimilar 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000796398 SCV000935910 uncertain significance Ataxia-telangiectasia syndrome 2024-01-28 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 1423 of the ATM protein (p.Cys1423Ser). 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: 482703). 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.
Baylor Genetics RCV003465229 SCV004210138 uncertain significance Familial cancer of breast 2023-07-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000796398 SCV002081733 uncertain significance Ataxia-telangiectasia syndrome 2021-04-10 no assertion criteria provided clinical testing

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