Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000023718 | SCV000292358 | pathogenic | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 2015-08-18 | criteria provided, single submitter | research | This variant has been previously reported as disease-causing and was identified in a 12 yo male with axonal neuropathy and neurosensory hearing loss. |
Gene |
RCV003228899 | SCV003926374 | pathogenic | not provided | 2022-11-18 | criteria provided, single submitter | clinical testing | Published functional studies suggest a damaging effect due to impairments in mitochondrial fission (Almutawa 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: 21480433, 31231018, 27875632, 26257172, 28708278) |
OMIM | RCV000023718 | SCV000045009 | pathogenic | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 2011-06-01 | no assertion criteria provided | literature only |