Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001008540 | SCV001168312 | pathogenic | not provided | 2023-01-19 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26033081, 29048736, 31589614, 33105617, 20440071, 34416374) |
| Labcorp Genetics |
RCV001008540 | SCV001415224 | pathogenic | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg56Profs*24) in the PDZD7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PDZD7 are known to be pathogenic (PMID: 20440071). 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 premature translational stop signal has been observed in individual(s) with autosomal recessive non-syndromic hearing loss (PMID: 29048736). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 30983). For these reasons, this variant has been classified as Pathogenic. |
| Laboratory of Human Genetics, |
RCV004719034 | SCV005324780 | pathogenic | Hearing loss, autosomal recessive | 2024-05-01 | criteria provided, single submitter | research | The PDZD7:NM_001195263.2:c.166dup is a null variant in a gene where loss of function is a known mechanism of disease (PVS1), it is associated with a recessive disorder, detected in trans with a pathogenic variant, in compound heterozygous state in affected cases (PM3), has extremely low frequency in gnomAD population databases (PM2), reported in ClinVar in affected individuals (PP5); here it was found with c.2211del in two affected siblings born from unrelated couple. |
| OMIM | RCV000023974 | SCV000045265 | risk factor | Usher syndrome type 2A | 2010-06-01 | no assertion criteria provided | literature only | |
| OMIM | RCV000656379 | SCV000778390 | pathogenic | Hearing loss, autosomal recessive 57 | 2010-06-01 | no assertion criteria provided | literature only |