Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UNC Molecular Genetics Laboratory, |
RCV000001254 | SCV001251511 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 49 | criteria provided, single submitter | research | MARVELD2 (also known as TRIC, encoding tricellulin) c.1183-1G>A (p.?) alters a splice-site that has been reported to result in the deletion of the first 17 nucleotides of TRIC exon 4, leading to a frameshift and premature termination of protein translation (PMID: 17186462). This variant segregated with autosomal recessive nonsyndromic hearing loss in one family (PMID: 17186462). | |
OMIM | RCV000001254 | SCV000021404 | pathogenic | Autosomal recessive nonsyndromic hearing loss 49 | 2006-12-01 | no assertion criteria provided | literature only |