ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7961C>G (p.Thr2654Ser)

dbSNP: rs786203621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065271 SCV001230226 uncertain significance Ataxia-telangiectasia syndrome 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 2654 of the ATM protein (p.Thr2654Ser). 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: 859210). 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.
Ambry Genetics RCV002418537 SCV002676469 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-17 criteria provided, single submitter clinical testing The p.T2654S variant (also known as c.7961C>G), located in coding exon 53 of the ATM gene, results from a C to G substitution at nucleotide position 7961. The threonine at codon 2654 is replaced by serine, 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.
Natera, Inc. RCV001065271 SCV002076044 uncertain significance Ataxia-telangiectasia syndrome 2021-01-13 no assertion criteria provided clinical testing

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