Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672382 | SCV000797481 | likely pathogenic | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A | 2018-01-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001055312 | SCV001219699 | pathogenic | not provided | 2023-04-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 556381). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 21203349). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Cys224*) 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). |
Baylor Genetics | RCV003459636 | SCV004207633 | pathogenic | Autosomal recessive nonsyndromic hearing loss 18A | 2023-09-24 | criteria provided, single submitter | clinical testing |