ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.553C>T (p.Gln185Ter)

gnomAD frequency: 0.00001  dbSNP: rs1860672898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780924 SCV002024037 likely pathogenic not provided 2021-05-12 criteria provided, single submitter clinical testing
GeneDx RCV001780924 SCV002584371 likely pathogenic not provided 2022-10-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001780924 SCV004531026 pathogenic not provided 2022-10-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1324219). This variant has not been reported in the literature in individuals affected with DEAF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln185*) in the DEAF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DEAF1 are known to be pathogenic (PMID: 30923367).

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