Submissions for variant NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)

gnomAD frequency: 0.00003  dbSNP: rs758275952

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000792272	SCV000931556	pathogenic	Nephronophthisis	2022-08-21	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 639470). This premature translational stop signal has been observed in individual(s) with NPHP4-related chronic kidney disease (Invitae). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs758275952, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg1109*) 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).
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	RCV001730711	SCV001981542	pathogenic	Nephronophthisis 4	2021-08-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002487641	SCV002782086	likely pathogenic	Nephronophthisis 4; Senior-Loken syndrome 4	2024-04-06	criteria provided, single submitter	clinical testing