ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4949A>C (p.Asn1650Thr)

dbSNP: rs55870064
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213695 SCV000274391 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-17 criteria provided, single submitter clinical testing The p.N1650T variant (also known as c.4949A>C), located in coding exon 32 of the ATM gene, results from an A to C substitution at nucleotide position 4949. The asparagine at codon 1650 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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 RCV000707453 SCV000836551 uncertain significance Ataxia-telangiectasia syndrome 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1650 of the ATM protein (p.Asn1650Thr). 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: 230738). 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.
Color Diagnostics, LLC DBA Color Health RCV000213695 SCV000913990 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567529 SCV005055682 uncertain significance Familial cancer of breast 2024-03-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000707453 SCV002078306 uncertain significance Ataxia-telangiectasia syndrome 2020-10-08 no assertion criteria provided clinical testing

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