ClinVar Miner

Submissions for variant NM_145292.4(GALNTL5):c.153dup (p.Val52fs)

dbSNP: rs746301883
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001290740 SCV001478466 likely pathogenic Male infertility 2021-02-09 no assertion criteria provided clinical testing Patient was diagnosed as oligo-astheno-teratozoospermia with 90% immotile sperm. Our analysis revealed a heterozygous frameshift mutation (c.153dup, p.Val52Serfs*23) in GALNTL5 which theoretically leads to an early translational termination at the very beginning part of the protein. A different heterozygous one nucleotide deletion have been identified before in GALNTL5 as causative for male fertility due to immotile sperm. Heterozygous mutations in Galntl5 affected male mice fertility due to immotile sperm (Takasaki et al 2014, doi:10.1073/pnas.1310777111 ).

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