ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5651C>T (p.Thr1884Ile)

dbSNP: rs1565482352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000775014 SCV000909110 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-28 criteria provided, single submitter clinical testing This missense variant replaces threonine with isoleucine at codon 1884 of the ATM protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002534171 SCV002992664 uncertain significance Ataxia-telangiectasia syndrome 2023-06-04 criteria provided, single submitter clinical testing 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 630087). 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). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1884 of the ATM protein (p.Thr1884Ile).
Ambry Genetics RCV000775014 SCV005018084 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-19 criteria provided, single submitter clinical testing The p.T1884I variant (also known as c.5651C>T), located in coding exon 36 of the ATM gene, results from a C to T substitution at nucleotide position 5651. The threonine at codon 1884 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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