ClinVar Miner

Submissions for variant NM_000965.5(RARB):c.1193C>G (p.Ser398Ter)

dbSNP: rs1701836507
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269663 SCV001449816 likely pathogenic not provided 2016-02-02 criteria provided, single submitter clinical testing
Invitae RCV001880195 SCV002139363 pathogenic Microphthalmia, syndromic 12 2023-03-08 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: 988355). This premature translational stop signal has been observed in individual(s) with clinical features of RARB-related conditions (PMID: 35105264; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser398*) in the RARB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 51 amino acid(s) of the RARB protein.
GeneDx RCV001269663 SCV003806089 likely pathogenic not provided 2022-03-23 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 51 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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