Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| SIB Swiss Institute of Bioinformatics | RCV000656349 | SCV000883170 | likely pathogenic | Hearing loss, autosomal recessive 57 | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Likely Pathogenic, for Deafness, autosomal recessive, 57. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/26416264). PM1 => Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation (https://prosite.expasy.org/PDOC50106) (https://www.uniprot.org/uniprot/Q9H5P4). |
| Labcorp Genetics |
RCV001051892 | SCV001216074 | pathogenic | not provided | 2025-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 103 of the PDZD7 protein (p.Gly103Arg). This variant is present in population databases (rs148695069, gnomAD 0.003%). This missense change has been observed in individual(s) with autosomal recessive non-syndromic hearing loss (PMID: 26416264). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 545399). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PDZD7 protein function. For these reasons, this variant has been classified as Pathogenic. |
| Genomic Medicine Center of Excellence, |
RCV003989572 | SCV004807025 | pathogenic | Usher syndrome type 2C | 2024-03-26 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV000656349 | SCV005913830 | likely pathogenic | Hearing loss, autosomal recessive 57 | 2023-01-27 | criteria provided, single submitter | research | |
| OMIM | RCV000656349 | SCV000778322 | pathogenic | Hearing loss, autosomal recessive 57 | 2018-06-01 | no assertion criteria provided | literature only |