ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs)

dbSNP: rs1278589861
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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 RCV000819424 SCV000960082 pathogenic Primary ciliary dyskinesia 2023-04-10 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: 661903). This variant has not been reported in the literature in individuals affected with CCDC40-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ile1002Asnfs*10) in the CCDC40 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCDC40 are known to be pathogenic (PMID: 21131974, 22693285, 23255504).
Baylor Genetics RCV001333981 SCV001526710 pathogenic Primary ciliary dyskinesia 15 2018-11-29 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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