ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter)

dbSNP: rs755802156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002223029 SCV002500569 likely pathogenic Brittle cornea syndrome 2 2022-03-02 criteria provided, single submitter clinical testing Variant summary: PRDM5 c.1650C>A (p.Cys550X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncation downstream of this position have been associated with brittle cornea syndrome in HGMD. The variant was absent in 250766 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1650C>A in individuals affected with Brittle Cornea Syndrome 2 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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