ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.8668del (p.Thr2890fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003151705 SCV003839163 pathogenic Spermatogenic failure 18 criteria provided, single submitter clinical testing A heterozygous 1bp deletion in exon 55 of the DNAH1 gene that results in a frameshift and premature truncation of the protein 46 amino acids downstream to codon 2890 was observed. The variant has not been reported in the 1000 genomes database and has a MAF of 0.001% in the gnomAD database. The in silico prediction of the variant is damaging by MutationTaster2 and reference region is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.
GeneDx RCV004775356 SCV005385394 uncertain significance not provided 2024-01-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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