Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001207646 | SCV001379009 | pathogenic | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg373*) in the COL4A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with a clinical diagnosis or clinical features of Alport syndrome (PMID: 8651296, 30577881). This variant is also known as 1319C>T, R373X. ClinVar contains an entry for this variant (Variation ID: 24367). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001207646 | SCV001764779 | pathogenic | not provided | 2022-11-15 | criteria provided, single submitter | clinical testing | Nonsense 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; Adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases; however, this variant has not been detected in presumably healthy individuals tested at GeneDx; This variant is associated with the following publications: (PMID: 25525159, 8738805, 8940267, 30577881, 33330536, 10862091, 8651296, 19965530) |
Fulgent Genetics, |
RCV001831593 | SCV002811571 | pathogenic | X-linked Alport syndrome | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003421928 | SCV004118414 | pathogenic | COL4A5-related condition | 2023-01-20 | criteria provided, single submitter | clinical testing | The COL4A5 c.1117C>T variant is predicted to result in premature protein termination (p.Arg373*). This variant was reported in individuals with Alport syndrome (Renieri et al 1996. PubMed ID: 8651296; Zhang X et al 2018. PubMed ID: 30577881). This variant was also reported in a female patient with features of COL45A-related disorders (Table 2, patient #7 Mastrangelo A et al 2020. PubMed ID: 33330536). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in COL4A5 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Genome Diagnostics Laboratory, |
RCV001207646 | SCV001977945 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001207646 | SCV001979686 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001831593 | SCV002081378 | pathogenic | X-linked Alport syndrome | 2021-07-23 | no assertion criteria provided | clinical testing |