ClinVar Miner

Submissions for variant NM_144668.6(CFAP251):c.1588_1589del (p.Leu530fs)

dbSNP: rs1565912409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Marseille Medical Genetics, U1251, Aix Marseille University, Inserm RCV000727542 SCV000778846 pathogenic multiple morphologic abnormalities of the sperm flagellum; Reduced sperm motility; dysplasia of the mitochondrial sheath 2018-06-29 no assertion criteria provided clinical testing Bialleleic rare loss-of-function variants in WDR66 have been described in two independent cases of asthenozoospermia with multiple morphologic abnormalities of the sperm flagellum. One of these cases was a compound heterozygote for p.Leu530Valfs*4 and a nonsense variant p.Glu111*. In this case a dysplasia of the mitochondrial sheath was described by immunofluorescence and electron microscopy (Auguste et al. 2018, article in revision).
OMIM RCV000714289 SCV000844964 pathogenic Spermatogenic failure 33 2024-03-04 no assertion criteria provided literature only

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