ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.6161G>A (p.Cys2054Tyr)

dbSNP: rs962629988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002275890 SCV002562744 uncertain significance Autosomal recessive nonsyndromic hearing loss 84B 2021-07-19 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 49 of the OTOGL gene that results in the amino acid substitution of Tyrosine for Cysteine at codon 2000 was detected. The observed variant c.5999G>A (p.Cys2000Tyr) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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