ClinVar Miner

Submissions for variant NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter)

gnomAD frequency: 0.00001  dbSNP: rs761275346
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Taipei Veterans General Hospital RCV001293685 SCV001759936 pathogenic Pituitary hormone deficiency, combined, 1 2020-12-09 criteria provided, single submitter clinical testing
Invitae RCV003546697 SCV004267111 pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg217*) in the POU1F1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acid(s) of the POU1F1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with clinical features of POU1F1-related conditions (PMID: 34815942). ClinVar contains an entry for this variant (Variation ID: 998004). This variant disrupts a region of the POU1F1 protein in which other variant(s) (p.Glu250Asnfs*2) have been determined to be pathogenic (PMID: 11297581). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001293685 SCV001482407 likely pathogenic Pituitary hormone deficiency, combined, 1 2019-05-31 no assertion criteria provided research

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