ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7812A>T (p.Arg2604Ser)

dbSNP: rs1484346818
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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 RCV000772788 SCV000906170 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces arginine with serine at codon 2604 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 ATM-related disorders in the literature. This variant has been identified in 1/250612 chromosomes 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 RCV001063624 SCV001228481 uncertain significance Ataxia-telangiectasia syndrome 2021-08-01 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. 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, but 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 2604 of the ATM protein (p.Arg2604Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine.
Ambry Genetics RCV000772788 SCV004007319 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-13 criteria provided, single submitter clinical testing The p.R2604S variant (also known as c.7812A>T), located in coding exon 52 of the ATM gene, results from an A to T substitution at nucleotide position 7812. The arginine at codon 2604 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.

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