ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4784A>C (p.Asn1595Thr)

gnomAD frequency: 0.00001  dbSNP: rs777812804
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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 RCV001023043 SCV001184858 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-03 criteria provided, single submitter clinical testing The p.N1595T variant (also known as c.4784A>C), located in coding exon 31 of the ATM gene, results from an A to C substitution at nucleotide position 4784. The asparagine at codon 1595 is replaced by threonine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001048690 SCV001212705 uncertain significance Ataxia-telangiectasia syndrome 2022-09-20 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 1595 of the ATM protein (p.Asn1595Thr). 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: 825170). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 RCV001023043 SCV001354630 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-05 criteria provided, single submitter clinical testing This missense variant replaces asparagine with threonine at codon 1595 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.
Natera, Inc. RCV001048690 SCV002075309 uncertain significance Ataxia-telangiectasia syndrome 2020-09-17 no assertion criteria provided clinical testing

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