ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3935dup (p.Glu1313fs) (rs876659672)

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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 RCV000223199 SCV000276377 pathogenic Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing The c.3935dupG pathogenic mutation, located in coding exon 25 of the ATM gene, results from a duplication of one nucleotide at position 3935, causing a translational frameshift with a predicted alternate stop codon (p.E1313Rfs*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.
Counsyl RCV000411978 SCV000485622 likely pathogenic Ataxia-telangiectasia syndrome 2016-01-18 criteria provided, single submitter clinical testing
Invitae RCV000411978 SCV000547131 pathogenic Ataxia-telangiectasia syndrome 2018-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1313Argfs*8) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 232284). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000483621 SCV000572793 pathogenic not provided 2019-08-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 27449771)

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