Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion, |
RCV002250982 | SCV002521283 | pathogenic | Usher syndrome type 1F | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The patient's phenotype is considered compatible with PCDH15 related disorder (3billion dataset). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Labcorp Genetics |
RCV003679083 | SCV004403887 | pathogenic | not provided | 2023-12-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe21*) in the PCDH15 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCDH15 are known to be pathogenic (PMID: 11398101, 11487575, 14570705). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 36384460). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003475311 | SCV004200868 | pathogenic | Autosomal recessive nonsyndromic hearing loss 23 | 2022-08-01 | flagged submission | clinical testing |