ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.2951del (p.Lys984fs)

dbSNP: rs753307279
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825634 SCV000966997 likely pathogenic Non-syndromic male infertility due to sperm motility disorder 2018-10-02 criteria provided, single submitter clinical testing The p.Lys984SerfsX3 variant in DNAH1 has not been previously reported in individ uals with spermatogenic failure but has been identified in 3/246070 of chromosom es by gnomAD (http://gnomad.broadinstitute.org). This variant is predicted to ca use a frameshift, which alters the protein?s amino acid sequence beginning at po sition 984 and leads to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Bial lelic loss of function variants have been reported in several infertile males wi th spermatogenic failure. In summary, although additional studies are required t o fully establish its clinical significance, the p.Lys984SerfsX3 variant is like ly pathogenic. ACMG/AMP criteria applied: PVS1, PM2.

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