ClinVar Miner

Submissions for variant NM_006383.4(CIB2):c.300_309del (p.Glu100fs)

gnomAD frequency: 0.00003  dbSNP: rs765741202
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000607732 SCV000712586 pathogenic Rare genetic deafness 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV001225372 SCV001397652 pathogenic not provided 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu100Aspfs*28) in the CIB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CIB2 are known to be pathogenic (PMID: 26173970, 26226137, 26445815). This variant is present in population databases (rs765741202, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with autosomal recessive deafness (PMID: 29112224). ClinVar contains an entry for this variant (Variation ID: 505395). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001225372 SCV001772215 likely pathogenic not provided 2021-05-28 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29112224, 31589614)
Fulgent Genetics, Fulgent Genetics RCV002483678 SCV002784406 likely pathogenic Autosomal recessive nonsyndromic hearing loss 48; Usher syndrome type 1J 2021-08-06 criteria provided, single submitter clinical testing

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