ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2326dup (p.Ile776fs)

gnomAD frequency: 0.00001  dbSNP: rs758555088
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670894 SCV000795807 likely pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV001232682 SCV001405249 pathogenic not provided 2023-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 555137). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. This variant is present in population databases (rs758555088, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ile476Asnfs*11) in the USH1C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349).
Preventiongenetics, part of Exact Sciences RCV003403559 SCV004120863 pathogenic USH1C-related condition 2022-09-11 criteria provided, single submitter clinical testing The USH1C c.2326dupA variant is predicted to result in a frameshift and premature protein termination (p.Ile776Asnfs*11). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-17522651-A-AT). Frameshift variants in USH1C are expected to be pathogenic. This variant is interpreted as pathogenic.
Baylor Genetics RCV003459620 SCV004207662 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2023-05-17 criteria provided, single submitter clinical testing

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