ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)

gnomAD frequency: 0.00001  dbSNP: rs371595543
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696160 SCV000824708 pathogenic Primary ciliary dyskinesia 2023-09-27 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: 574268). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 22499950). This sequence change creates a premature translational stop signal (p.Lys438*) 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). This variant is present in population databases (rs371595543, gnomAD 0.007%).
Illumina Laboratory Services, Illumina RCV000779233 SCV000915785 uncertain significance Primary ciliary dyskinesia 15 2017-09-08 criteria provided, single submitter clinical testing Based on the potential impact of frameshift variants and the evidence, the p.Trp77LeufsTer13 variant is classified as likely pathogenic for Desbuquois dysplasia.
PreventionGenetics, part of Exact Sciences RCV003965446 SCV004786311 pathogenic CCDC40-related condition 2023-12-15 criteria provided, single submitter clinical testing The CCDC40 c.1312A>T variant is predicted to result in premature protein termination (p.Lys438*). This variant has been reported in the presumed compound heterozygous state in an individual with primary ciliary dyskinesia (Nakhleh et al. 2012. PubMed ID: 22499950). This variant is reported in 0.0065% of alleles in individuals of African descent in gnomAD. Nonsense variants in CCDC40 are expected to be pathogenic. This variant is interpreted as pathogenic.

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