ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.729_741del (p.Leu243fs)

dbSNP: rs2079760023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216483 SCV001388283 pathogenic Ataxia-telangiectasia syndrome 2019-05-16 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu243Phefs*8) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002379818 SCV002672921 pathogenic Hereditary cancer-predisposing syndrome 2021-03-08 criteria provided, single submitter clinical testing The c.729_741del13 pathogenic mutation, located in coding exon 6 of the ATM gene, results from a deletion of the nucleotides GGCTGTCAACTTT at nucleotide positions 729 to 741, causing a translational frameshift with a predicted alternate stop codon (p.L243Ffs*8). 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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