ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.6444G>A (p.Gln2148=)

gnomAD frequency: 0.00001  dbSNP: rs769544175
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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 RCV000698945 SCV000827636 pathogenic Primary ciliary dyskinesia 2024-01-09 criteria provided, single submitter clinical testing This sequence change affects codon 2148 of the DNAH5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DNAH5 protein. This variant also falls at the last nucleotide of exon 38, which is part of the consensus splice site for this exon. This variant is present in population databases (rs769544175, gnomAD 0.004%). This variant has been observed in individual(s) with clinical features of primary ciliary dyskinesia (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 576446). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000698945 SCV002080892 uncertain significance Primary ciliary dyskinesia 2019-11-11 no assertion criteria provided clinical testing

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