ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.887A>C (p.Lys296Thr)

gnomAD frequency: 0.00001  dbSNP: rs1064795297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562145 SCV000668166 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-28 criteria provided, single submitter clinical testing The p.K296T variant (also known as c.887A>C), located in coding exon 6 of the ATM gene, results from an A to C substitution at nucleotide position 887. The lysine at codon 296 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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 RCV001231011 SCV001403514 uncertain significance Ataxia-telangiectasia syndrome 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 296 of the ATM protein (p.Lys296Thr). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 482756). 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.
Natera, Inc. RCV001231011 SCV002089548 uncertain significance Ataxia-telangiectasia syndrome 2019-10-28 no assertion criteria provided clinical testing

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