Submissions for variant NM_001164496.2(CFAP44):c.1387G>T (p.Glu463Ter)

dbSNP: rs866096259

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Diagnostics, First Genomix Laboratory	RCV000626425	SCV003925561	pathogenic	Spermatogenic failure 20	2022-07-04	criteria provided, single submitter	clinical testing	First Genomix Laboratory has identified this variant in a homozygous state in a patient presenting with immotile sperm and Glucose-6-Phosphate Dehydrogenase Deficiency. In addition, this variant was identified in a heterozygous state in an unaffected patient. Coutton et al., 2018 have identified this variant in a homozygous state in a patient presenting with primary infertility due to multiple morphological abnormalities of the flagella (PMID: 29449551).
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000626425	SCV004804780	pathogenic	Spermatogenic failure 20	2024-03-17	criteria provided, single submitter	research
OMIM	RCV000626425	SCV000747116	pathogenic	Spermatogenic failure 20	2018-05-02	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004754508	SCV005361388	likely pathogenic	CFAP44-related disorder	2024-07-31	no assertion criteria provided	clinical testing	The CFAP44 c.1387G>T variant is predicted to result in premature protein termination (p.Glu463*). This variant has been reported in the homozygous state in two unrelated patients with primary infertility due to multiple morphologic abnormalities of sperm flagella with severe disorganization of the sperm axoneme (Coutton et al. 2018. PubMed ID: 29449551). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in CFAP44 are expected to be pathogenic. This variant is interpreted as likely pathogenic.