ClinVar Miner

Submissions for variant NM_006383.4(CIB2):c.9C>G (p.Asn3Lys)

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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 RCV002463827 SCV002600904 uncertain significance Autosomal recessive nonsyndromic hearing loss 48 2022-09-15 criteria provided, single submitter clinical testing A homozygous missense variation in exon 1 of the CIB2 gene that results in the amino acid substitution of Lysine for Asparagine at codon 3 was detected . This variant has not been reported in the 1000 genomes and gnomAD databases . The in silico predictions of the variant are probably damaging by PolyPhen- 2 (HumDiv) and damaging by SIFT and LRT. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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