ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)

gnomAD frequency: 0.00001  dbSNP: rs560398270
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812139 SCV000952443 pathogenic Primary ciliary dyskinesia 2024-03-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2795*) 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 (rs560398270, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of primary ciliary dyskinesia (PMID: 30067075). ClinVar contains an entry for this variant (Variation ID: 655872). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000812139 SCV002680211 pathogenic Primary ciliary dyskinesia 2019-01-26 criteria provided, single submitter clinical testing The p.R2795* pathogenic mutation (also known as c.8383C>T), located in coding exon 50 of the DNAH5 gene, results from a C to T substitution at nucleotide position 8383. This changes the amino acid from an arginine to a stop codon within coding exon 50. 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.
Natera, Inc. RCV000812139 SCV002080847 pathogenic Primary ciliary dyskinesia 2020-12-08 no assertion criteria provided clinical testing
Yale Center for Mendelian Genomics, Yale University RCV000812139 SCV002106450 likely pathogenic Primary ciliary dyskinesia 2018-08-01 no assertion criteria provided literature only

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