ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.36+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381432 SCV001579815 pathogenic not provided 2020-06-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the USH1C gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with USH1C-related conditions (PMID: 11139240). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001381432 SCV001782279 likely pathogenic not provided 2021-01-25 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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