ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) (rs886039637)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255522 SCV000322565 likely pathogenic not provided 2019-04-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26373574, 33436325)
Ambry Genetics RCV000569538 SCV000665654 pathogenic Hereditary cancer-predisposing syndrome 2018-12-20 criteria provided, single submitter clinical testing The p.Y1252* pathogenic mutation (also known as c.3756T>A), located in coding exon 25 of the ATM gene, results from a T to A substitution at nucleotide position 3756. This changes the amino acid from a tyrosine to a stop codon within coding exon 25. 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 RCV000665264 SCV000789355 likely pathogenic Ataxia-telangiectasia syndrome 2017-01-26 criteria provided, single submitter clinical testing
Color Health, Inc RCV000569538 SCV000903427 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Invitae RCV000665264 SCV001390925 pathogenic Ataxia-telangiectasia syndrome 2019-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1252*) 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 conditions. ClinVar contains an entry for this variant (Variation ID: 265575). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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