ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.9480T>A (p.Cys3160Ter)

dbSNP: rs764948792
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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 RCV000807882 SCV000947958 pathogenic Primary ciliary dyskinesia 2022-03-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 652346). This variant has not been reported in the literature in individuals affected with DNAH5-related conditions. This variant is present in population databases (rs764948792, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Cys3160*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867).
Ambry Genetics RCV000807882 SCV002688357 pathogenic Primary ciliary dyskinesia 2016-06-01 criteria provided, single submitter clinical testing The p.C3160* pathogenic mutation (also known as c.9480T>A), located in coding exon 56 of the DNAH5 gene, results from a T to A substitution at nucleotide position 9480. This changes the amino acid from a cysteine to a stop codon within coding exon 56. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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