ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4229A>G (p.Lys1410Arg)

dbSNP: rs2082647905
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239192 SCV001412044 uncertain significance Ataxia-telangiectasia syndrome 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1410 of the ATM protein (p.Lys1410Arg). 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: 964877). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV001806073 SCV002052071 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-15 criteria provided, single submitter clinical testing This missense variant replaces lysine with arginine at codon 1410 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.
Ambry Genetics RCV001806073 SCV002630772 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-09 criteria provided, single submitter clinical testing The p.K1410R variant (also known as c.4229A>G), located in coding exon 27 of the ATM gene, results from an A to G substitution at nucleotide position 4229. The lysine at codon 1410 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly 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.
Natera, Inc. RCV001239192 SCV002079303 uncertain significance Ataxia-telangiectasia syndrome 2021-04-05 no assertion criteria provided clinical testing

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