ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.1053C>A (p.Cys351Ter)

dbSNP: rs1895773215
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001089547 SCV001244789 likely pathogenic Hearing loss, autosomal recessive 110 2018-04-26 criteria provided, single submitter clinical testing A homozygous nonsense variant, NM_004086.2(COCH):c.1053C>A, has been identified in exon 11 of 12 of the COCH gene. This variant is predicted to result in loss of protein function either through truncation (including von Willebrand factor A-like domain) or nonsense-mediated decay. The variant is absent in population databases (gnomAD, dbSNP, 1000G). This variant has not been previously reported in clinical cases.Testing of this patient's parents has indicated they are both carriers. Based oncurrent information, this variant has been classified as LIKELY PATHOGENIC.NB: This variant has been reclassified to likely pathogenic due to confirming homozygosity in this patient by testing of the parents and updated published information regarding ahomozygous loss-of-function variant in this gene being associated with congenital hearing loss (JanssensdeVarebeke et al, 2018).

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