ClinVar Miner

Submissions for variant NM_001379180.1(ESRRB):c.1360G>C (p.Val454Leu)

gnomAD frequency: 0.00013  dbSNP: rs546495818
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769316 SCV002003478 uncertain significance not provided 2020-11-02 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001769316 SCV002985959 likely pathogenic not provided 2022-07-15 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1313365). This variant has not been reported in the literature in individuals affected with ESRRB-related conditions. This variant is present in population databases (rs546495818, gnomAD 0.04%). This sequence change affects a donor splice site in intron 9 of the ESRRB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ESRRB are known to be pathogenic (PMID: 18179891).

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