ClinVar Miner

Submissions for variant NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter)

dbSNP: rs1269179049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Reproductive and Stem Cell Engineering, Central South University RCV000856592 SCV001190586 pathogenic Spermatogenic failure 40 2019-08-14 criteria provided, single submitter research WES was performed to analyse the genetic etiology of a cohort of 47 individuals with severe asthenozoospermia from 45 unrelated Chinese families. One homozygous non-sense mutation (NM_194302, c.G5341T:p.E1781X), two compound heterozygous mutations (c.C2284T:p.R762X and c.1751delC:p.P584fs) and two compound heterozygous mutations (c.5714_5721del:p.L1905fs and c.C3021A:p.N1007K) were identified in CFAP65 of three individuals with completely immotile spermatozoa, respectively. No biallelic deleterious variants of CFAP65 were detected in the control cohort of 637 individuals. Ultrastructural and immunostaining analyses of spermatozoa from two patients showed highly aberrant sperm morphology with severe defects such as acrosome hypoplasia, disruption of the mitochondrial sheath and absence of the central pair complex.
OMIM RCV000856592 SCV000999090 pathogenic Spermatogenic failure 40 2020-07-21 no assertion criteria provided literature only

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