ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6049dup (p.Ser2017fs) (rs797045030)

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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 RCV000575568 SCV000665429 pathogenic Hereditary cancer-predisposing syndrome 2017-09-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Baylor Miraca Genetics Laboratories, RCV000191063 SCV000245453 pathogenic Ataxia-telangiectasia syndrome 2014-09-22 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with a pathogenic variant [V2424G] in a 27-year-old female with ataxia and elevated AFP
Color RCV000575568 SCV000903396 pathogenic Hereditary cancer-predisposing syndrome 2017-09-26 criteria provided, single submitter clinical testing
Invitae RCV000191063 SCV000547024 pathogenic Ataxia-telangiectasia syndrome 2018-11-01 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 41 of the ATM mRNA (c.6049dupA), causing a frameshift at codon 2017. This creates a premature translational stop signal (p.Ser2017Lysfs*16) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in ATM are known to be pathogenic  (PMID: 25614872, 23807571). For these reasons, this variant has been classified as Pathogenic.

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