ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4148C>A (p.Ser1383Ter) (rs141087784)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668716 SCV000793361 likely pathogenic Ataxia-telangiectasia syndrome 2017-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021947 SCV001183627 pathogenic Hereditary cancer-predisposing syndrome 2017-12-11 criteria provided, single submitter clinical testing The p.S1383* pathogenic mutation (also known as c.4148C>A), located in coding exon 27 of the ATM gene, results from a C to A substitution at nucleotide position 4148. This changes the amino acid from a serine to a stop codon within coding exon 27. 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.
Invitae RCV000668716 SCV001592887 pathogenic Ataxia-telangiectasia syndrome 2020-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1383*) 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: 553301). 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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