ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val)

gnomAD frequency: 0.00034  dbSNP: rs185283741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690315 SCV000817997 uncertain significance Primary ciliary dyskinesia 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3823 of the DNAH8 protein (p.Ala3823Val). This variant is present in population databases (rs185283741, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. ClinVar contains an entry for this variant (Variation ID: 569635). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Johns Hopkins Genomics, Johns Hopkins University RCV001290377 SCV001478431 uncertain significance Spermatogenic failure 46 2021-01-19 criteria provided, single submitter clinical testing This DNAH8 variant (rs185283741) is present in a large population dataset (gnomAD: 102/280708 total alleles; 0.036%; no homozygotes) and has been reported in ClinVar. It has not been reported in the literature, to our knowledge. One bioinformatic tool queried predicts that this substitution would be tolerated, and the alanine residue at this position is poorly evolutionarily conserved across the species assessed. We consider the clinical significance of c.11432C>T to be uncertain at this time.
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV000690315 SCV002573569 uncertain significance Primary ciliary dyskinesia 2022-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258923 SCV003983780 uncertain significance Inborn genetic diseases 2023-05-05 criteria provided, single submitter clinical testing The c.11468C>T (p.A3823V) alteration is located in exon 77 (coding exon 76) of the DNAH8 gene. This alteration results from a C to T substitution at nucleotide position 11468, causing the alanine (A) at amino acid position 3823 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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