ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3064A>G (p.Ile1022Val)

dbSNP: rs786202470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165293 SCV000216011 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-03 criteria provided, single submitter clinical testing The p.I1022V variant (also known as c.3064A>G), located in coding exon 19 of the ATM gene, results from an A to G substitution at nucleotide position 3064. The isoleucine at codon 1022 is replaced by valine, an amino acid with highly 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 RCV000467416 SCV000547001 uncertain significance Ataxia-telangiectasia syndrome 2019-11-14 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 185803). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 1022 of the ATM protein (p.Ile1022Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. 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.

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