ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.248+1G>A

gnomAD frequency: 0.00002  dbSNP: rs1482487617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671298 SCV000796259 likely pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-12-08 criteria provided, single submitter clinical testing
Invitae RCV001855556 SCV002257723 likely pathogenic not provided 2021-05-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the USH1C 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 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. 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. This variant has not been reported in the literature in individuals with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 555472). This variant is not present in population databases (ExAC no frequency).

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