ClinVar Miner

Submissions for variant NM_001038603.3(MARVELD2):c.1183-1G>A

gnomAD frequency: 0.00001  dbSNP: rs200781822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 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

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