ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2377_2378dup (p.Ser794fs) (rs1057516980)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410884 SCV000486540 likely pathogenic Ataxia-telangiectasia syndrome 2016-09-16 criteria provided, single submitter clinical testing
Invitae RCV000410884 SCV000547053 pathogenic Ataxia-telangiectasia syndrome 2016-03-31 criteria provided, single submitter clinical testing This sequence change inserts 2 nucleotides in exon 16 of the ATM mRNA (c.2377_2378dupAA), causing a frameshift at codon 794. This creates a premature translational stop signal (p.Ser794Argfs*15) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in ATM are known to be pathogenic (PMID: 10817650, 19781682). For these reasons, this variant has been classified as Pathogenic.

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