ClinVar Miner

Submissions for variant NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter)

gnomAD frequency: 0.00001  dbSNP: rs756868889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629320 SCV000750255 pathogenic Primary ciliary dyskinesia 2023-02-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 525269). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 23993197, 31130284). This variant is present in population databases (rs756868889, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln144*) in the RSPH4A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RSPH4A are known to be pathogenic (PMID: 19200523).
Illumina Laboratory Services, Illumina RCV000778772 SCV000915141 uncertain significance Primary ciliary dyskinesia 11 2019-01-11 criteria provided, single submitter clinical testing The RSPH4A c.430C>T (p.Gln144Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. The p.Gln144Ter variant has been reported in a heterozygous state in one individual affected with primary ciliary dyskinesia (Kott et al. 2013). The variant is found at a frequency of 0.000012 in the Total population of the Genome Aggregation Database. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Gln144Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for primary ciliary dyskinesia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000778772 SCV004804712 pathogenic Primary ciliary dyskinesia 11 2024-03-17 criteria provided, single submitter research

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