ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6273G>A (p.Trp2091Ter)

dbSNP: rs2136166539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001983073 SCV002240938 pathogenic Ataxia-telangiectasia syndrome 2022-02-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp2091*) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872).
Ambry Genetics RCV003170181 SCV003868801 pathogenic Hereditary cancer-predisposing syndrome 2023-01-31 criteria provided, single submitter clinical testing The p.W2091* pathogenic mutation (also known as c.6273G>A), located in coding exon 42 of the ATM gene, results from a G to A substitution at nucleotide position 6273. This changes the amino acid from a tryptophan to a stop codon within coding exon 42. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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