ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.750dup (p.Ser251fs)

dbSNP: rs754862360
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003586262 SCV004291233 pathogenic Nephronophthisis 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser251Leufs*6) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with NPHP4-related conditions (PMID: 23559409). ClinVar contains an entry for this variant (Variation ID: 829848). For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029787 SCV001192566 pathogenic Nephronophthisis 4 2019-05-28 no assertion criteria provided clinical testing

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