ClinVar Miner

Submissions for variant NM_006384.4(CIB1):c.214C>T (p.Arg72Ter)

gnomAD frequency: 0.00004  dbSNP: rs143773090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001869011 SCV002226394 pathogenic not provided 2024-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg112*) in the CIB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CIB1 are known to be pathogenic (PMID: 30068544). This variant is present in population databases (rs143773090, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with epidermodysplasia verruciformis (PMID: 30068544). This variant is also known as c.214C>T (p.Arg72*). ClinVar contains an entry for this variant (Variation ID: 599257). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000735848 SCV000863999 risk factor Epidermodysplasia verruciformis, susceptibility to, 3 2019-02-01 no assertion criteria provided literature only

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