ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2546+1G>T

dbSNP: rs1554953350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664592 SCV000788581 likely pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-04-21 criteria provided, single submitter clinical testing
Invitae RCV001201442 SCV001372509 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 20 of the USH1C gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). 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: 549987). 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 may disrupt the consensus splice site. 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.

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