ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.1493_1494del (p.Leu498fs)

dbSNP: rs2104480049
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001913291 SCV002176037 pathogenic Nephronophthisis 2022-08-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NPHP1-related conditions. This sequence change creates a premature translational stop signal (p.Leu554Glnfs*50) in the NPHP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHP1 are known to be pathogenic (PMID: 23559409). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1402007). For these reasons, this variant has been classified as Pathogenic.

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