ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs)

gnomAD frequency: 0.00001  dbSNP: rs1327245073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389639 SCV001591069 pathogenic not provided 2022-10-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 473146). This variant has not been reported in the literature in individuals affected with CPLANE1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Ser626Thrfs*26) in the CPLANE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPLANE1 are known to be pathogenic (PMID: 24178751, 26092869).
Fulgent Genetics, Fulgent Genetics RCV002491089 SCV002789392 likely pathogenic Orofaciodigital syndrome type 6; Joubert syndrome 17 2022-02-11 criteria provided, single submitter clinical testing

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