Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001290378 | SCV001478432 | uncertain significance | Spermatogenic failure 46 | 2021-01-19 | criteria provided, single submitter | clinical testing | This DNAH8 variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. One bioinformatic tool queried predicts that this substitution would be damaging, and the lysine residue at this position is highly evolutionarily conserved across all species assessed. We consider the clinical significance of c.3565A>G to be uncertain at this time. |
Ambry Genetics | RCV003263927 | SCV003977479 | uncertain significance | Inborn genetic diseases | 2023-05-05 | criteria provided, single submitter | clinical testing | The c.3601A>G (p.K1201E) alteration is located in exon 27 (coding exon 26) of the DNAH8 gene. This alteration results from a A to G substitution at nucleotide position 3601, causing the lysine (K) at amino acid position 1201 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |