ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4363del (p.Ser1455fs)

dbSNP: rs1591663478
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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 RCV001022365 SCV001184094 pathogenic Hereditary cancer-predisposing syndrome 2018-10-30 criteria provided, single submitter clinical testing The c.4363delA pathogenic mutation, located in coding exon 28 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 4363, causing a translational frameshift with a predicted alternate stop codon (p.S1455Vfs*3). 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 RCV001228009 SCV001400390 pathogenic Ataxia-telangiectasia syndrome 2019-11-07 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser1455Valfs*3) in the ATM gene. It is expected to result in an absent or disrupted protein product.

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