ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)

gnomAD frequency: 0.00001  dbSNP: rs1025515771
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594142 SCV000703440 pathogenic not provided 2016-11-09 criteria provided, single submitter clinical testing
Invitae RCV001381479 SCV001579890 pathogenic Nephronophthisis 2022-10-18 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with a nephronophthisis-related ciliopathy (PMID: 23559409). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 498434). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln671*) 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).
Fulgent Genetics, Fulgent Genetics RCV002497256 SCV002800855 pathogenic Nephronophthisis 4; Senior-Loken syndrome 4 2022-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900316 SCV004718947 pathogenic NPHP4-related condition 2024-02-22 criteria provided, single submitter clinical testing The NPHP4 c.2011C>T variant is predicted to result in premature protein termination (p.Gln671*). This variant was reported in individuals with autosomal recessive NPHP4-related disorders (Halbritter et al. 2013. PubMed ID: 23559409; Table S2, König et al. 2022. PubMed ID: 36090483). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in NPHP4 are expected to be pathogenic. This variant is interpreted as pathogenic.

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