Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Groupe Hospitalier Pitie Salpetriere, |
RCV000496181 | SCV000586755 | pathogenic | Perrault syndrome 4 | 2017-01-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003441896 | SCV004170496 | likely pathogenic | not provided | 2023-04-21 | criteria provided, single submitter | clinical testing | Published functional studies suggest this variant is associated with reduced mitochondrial leucyl-tRNA synthase activity (van der Knaap MS et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 30737337, 28708303, 32399598) |
Reproductive Development, |
RCV000496181 | SCV001244306 | pathogenic | Perrault syndrome 4 | 2019-10-21 | no assertion criteria provided | research | |
OMIM | RCV000496181 | SCV001469098 | pathogenic | Perrault syndrome 4 | 2021-01-15 | no assertion criteria provided | literature only |