ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2280+6del

gnomAD frequency: 0.00016  dbSNP: rs776356060
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000603989 SCV000712322 uncertain significance not specified 2017-09-04 criteria provided, single submitter clinical testing The c.2280+6delT variant in USH1C has not been previously reported in any indivi duals with hearing loss or Usher syndrome, but has been identified in 14/25378 F inish chromosomes and 27/125444 non-Finnish European chromosomes by the Genome A ggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs778799555 ). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. This variant is located in the 5' splice region. Computational tools do not suggest an impact to splicing. How ever, this information is not predictive enough to rule out pathogenicity. In su mmary, the clinical significance of the c.2280+6delT variant is uncertain.
Invitae RCV002529320 SCV003301498 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the USH1C gene. It does not directly change the encoded amino acid sequence of the USH1C protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs776356060, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 505188). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001835876 SCV002083676 uncertain significance Usher syndrome type 1C 2019-11-11 no assertion criteria provided clinical testing

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