ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.3601A>G (p.Lys1201Glu)

dbSNP: rs1772998152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University 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.

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