ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5554C>T (p.Gln1852Ter) (rs754562056)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409717 SCV000485972 likely pathogenic Ataxia-telangiectasia syndrome 2016-03-10 criteria provided, single submitter clinical testing
Invitae RCV000409717 SCV001401485 pathogenic Ataxia-telangiectasia syndrome 2020-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1852*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754562056, ExAC 0.002%). This variant has been observed in individuals with personal or family history of breast and/or ovarian cancer (PMID: 24549055, 28779002). ClinVar contains an entry for this variant (Variation ID: 370611). 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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