ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7313_7314dup (p.Val2439fs)

dbSNP: rs1591159614
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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 RCV001026263 SCV001188608 pathogenic Hereditary cancer-predisposing syndrome 2019-01-14 criteria provided, single submitter clinical testing The c.7313_7314dupCA pathogenic mutation, located in coding exon 49 of the ATM gene, results from a duplication of CA at nucleotide position 7313, causing a translational frameshift with a predicted alternate stop codon (p.V2439Qfs*2). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001382900 SCV001581859 pathogenic Ataxia-telangiectasia syndrome 2020-07-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 826959). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val2439Glnfs*2) in the ATM gene. It is expected to result in an absent or disrupted protein product.

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