ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.812_813insA (p.Pro272fs)

dbSNP: rs2104553788
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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 RCV001932927 SCV002193864 pathogenic Nephronophthisis 2021-02-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro328Serfs*49) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with NPHP1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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