ClinVar Miner

Submissions for variant NM_001379180.1(ESRRB):c.498C>A (p.Cys166Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003062646 SCV003442353 pathogenic not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys145*) in the ESRRB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ESRRB are known to be pathogenic (PMID: 18179891). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 27610647). For these reasons, this variant has been classified as Pathogenic.

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