ClinVar Miner

Submissions for variant NM_032930.3(CFAP300):c.433A>T (p.Arg145Ter)

gnomAD frequency: 0.00002  dbSNP: rs754773453
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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 RCV003727794 SCV004540572 pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg145*) in the C11orf70 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in C11orf70 are known to be pathogenic (PMID: 29727692, 29727693). This variant is present in population databases (rs754773453, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 29727693). ClinVar contains an entry for this variant (Variation ID: 549861). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000664436 SCV000788400 pathogenic Ciliary dyskinesia, primary, 38 2018-07-30 no assertion criteria provided literature only

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