ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.3006A>T (p.Lys1002Asn)

dbSNP: rs1268449600
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001290374 SCV001478428 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 tolerated, and the lysine residue at this position is highly evolutionarily conserved across most species assessed. We consider the clinical significance of c.2970A>T to be uncertain at this time.

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