ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1058G>A (p.Cys353Tyr)

dbSNP: rs1591511538
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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 RCV001009758 SCV001169862 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-17 criteria provided, single submitter clinical testing The p.C353Y variant (also known as c.1058G>A), located in coding exon 7 of the ATM gene, results from a G to A substitution at nucleotide position 1058. The cysteine at codon 353 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001009758 SCV004358047 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-18 criteria provided, single submitter clinical testing This missense variant replaces cysteine with tyrosine at codon 353 of the ATM protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, 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.
Invitae RCV001832330 SCV004635112 uncertain significance Ataxia-telangiectasia syndrome 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 353 of the ATM protein (p.Cys353Tyr). 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: 818291). 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 disruptive. 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.
Natera, Inc. RCV001832330 SCV002090301 uncertain significance Ataxia-telangiectasia syndrome 2021-03-31 no assertion criteria provided clinical testing

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