ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.748_759+5del (rs1355262412)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673343 SCV000798532 likely pathogenic Usher syndrome, type 1C; Deafness, autosomal recessive 18 2018-03-14 criteria provided, single submitter clinical testing
Invitae RCV001377936 SCV001575392 likely pathogenic not provided 2020-09-15 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 9 (c.748_759+5del) 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). This variant has been observed in individual(s) with Usher syndrome (PMID: 17407589, 28041643). ClinVar contains an entry for this variant (Variation ID: 437936). 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. Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). 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.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504842 SCV000598664 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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