ClinVar Miner

Submissions for variant NM_000066.4(C8B):c.1441del (p.Tyr481fs)

gnomAD frequency: 0.00011  dbSNP: rs752754320
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003818415 SCV004612936 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with C8B-related conditions. This variant is present in population databases (rs752754320, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Tyr481Ilefs*5) in the C8B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in C8B are known to be pathogenic (PMID: 7594510).

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