ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)

gnomAD frequency: 0.00002  dbSNP: rs372118787
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674101 SCV000799377 likely pathogenic Primary ciliary dyskinesia 3 2018-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000689854 SCV000817523 pathogenic Primary ciliary dyskinesia 2022-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp4206*) 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). This variant is present in population databases (rs372118787, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DNAH5-related conditions. ClinVar contains an entry for this variant (Variation ID: 557901). For these reasons, this variant has been classified as Pathogenic.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000674101 SCV001439379 pathogenic Primary ciliary dyskinesia 3 2020-09-18 criteria provided, single submitter research ACMG codes:PVS1, PM2, PM3, PP5
Ambry Genetics RCV000689854 SCV002680247 pathogenic Primary ciliary dyskinesia 2018-05-17 criteria provided, single submitter clinical testing The p.W4206* pathogenic mutation (also known as c.12617G>A), located in coding exon 73 of the DNAH5 gene, results from a G to A substitution at nucleotide position 12617. This changes the amino acid from a tryptophan to a stop codon within coding exon 73. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Yale Center for Mendelian Genomics, Yale University RCV000689854 SCV002106454 likely pathogenic Primary ciliary dyskinesia 2018-08-01 no assertion criteria provided literature only

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