ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter)

gnomAD frequency: 0.00002  dbSNP: rs1210874691
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731877 SCV000859740 pathogenic not provided 2018-02-13 criteria provided, single submitter clinical testing
Invitae RCV000796841 SCV000936370 pathogenic Nephronophthisis 2020-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu453*) in the NPHP4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NPHP4-related disease. Loss-of-function variants in NPHP4 are known to be pathogenic (PMID: 23559409). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002485904 SCV002791405 likely pathogenic Nephronophthisis 4; Senior-Loken syndrome 4 2021-12-16 criteria provided, single submitter clinical testing

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