Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037097 | SCV000060754 | likely pathogenic | Rare genetic deafness | 2019-02-11 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Gene |
RCV000599609 | SCV000710015 | pathogenic | not provided | 2022-09-13 | 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; This variant is associated with the following publications: (PMID: 20440071, 29048736, 26849169, 31454969) |
Invitae | RCV000599609 | SCV001211134 | pathogenic | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser703Valfs*20) 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). This variant is present in population databases (rs397516633, gnomAD 0.06%). This premature translational stop signal has been observed in individual(s) with non-syndromic hearing loss (PMID: 26849169). ClinVar contains an entry for this variant (Variation ID: 44121). For these reasons, this variant has been classified as Pathogenic. |
UNC Molecular Genetics Laboratory, |
RCV000656355 | SCV001423849 | likely pathogenic | Hearing loss, autosomal recessive 57 | criteria provided, single submitter | research | The PDZD7 c.2107delA [p.S703fs] frameshift variant is predicted to result in premature truncation and/or absence of the PDZD7 protein and has previously been reported in prelingual, non-syndromic autosomal recessive hearing loss (PMID: 26849169). | |
DASA | RCV001849292 | SCV002107080 | pathogenic | Usher syndrome, type IIC, GPR98/PDZD7 digenic | 2022-03-05 | criteria provided, single submitter | clinical testing | The c.2107delA;p.(Ser703Valfs*20) is a null frameshift variant (NMD) in the PDZD7 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 44121; PMID: 26849169; PMID: 20440071) - PS4. The variant is present at low allele frequencies population databases (rs397516633 – gnomAD 0.003017%; ABraOM 0.001281 frequency - http://abraom.ib.usp.br/) - PM2_supporting. The p.(Ser703Valfs*20) was detected in trans with a pathogenic variant (PMID: 26849169) and was detected in a homozygous state in the analyzed sample - PM3. The variant co-segregated with disease in multiple affected family members (PMID: 26849169) - PP1. In summary, the currently available evidence indicates that the variant is pathogenic. |
Fulgent Genetics, |
RCV002490502 | SCV002797720 | likely pathogenic | Usher syndrome type 2C; Usher syndrome type 2A; Hearing loss, autosomal recessive 57 | 2022-03-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003398601 | SCV004106050 | pathogenic | PDZD7-related condition | 2023-01-03 | criteria provided, single submitter | clinical testing | The PDZD7 c.2107delA variant is predicted to result in a frameshift and premature protein termination (p.Ser703Valfs*20). This variant has been reported as pathogenic in patients with non-syndromic hearing loss (Vona et al. 2016. PubMed ID: 26849169; Cruz Marino et al. 2021. PubMed ID: 34387732). This variant is reported in 0.060% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-102770538-CT-C). Frameshift variants in PDZD7 are expected to be pathogenic and this variant has been interpreted as pathogenic or likely pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/44121). We interpret this variant as pathogenic. |
OMIM | RCV000656355 | SCV000778328 | pathogenic | Hearing loss, autosomal recessive 57 | 2018-06-04 | no assertion criteria provided | literature only |