Submissions for variant NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)

gnomAD frequency: 0.00001  dbSNP: rs137852920

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001851618	SCV002155277	pathogenic	Nephronophthisis	2023-12-25	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg682*) in the NPHP4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHP4 are known to be pathogenic (PMID: 12205563, 23559409). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with nephronophthisis (PMID: 12244321). ClinVar contains an entry for this variant (Variation ID: 3401). For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000003570	SCV004804801	pathogenic	Nephronophthisis 4	2024-03-17	criteria provided, single submitter	research
OMIM	RCV000003570	SCV000023728	pathogenic	Nephronophthisis 4	2002-10-01	no assertion criteria provided	literature only
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	RCV000162133	SCV000196419	likely pathogenic	Infertility disorder; Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities)	2014-12-01	no assertion criteria provided	research