ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter)

dbSNP: rs1560000875
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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 RCV000694553 SCV000823004 pathogenic Nephronophthisis 2021-05-03 criteria provided, single submitter clinical testing Loss-of-function variants in NPHP3 are known to be pathogenic (PMID: 23559409). This sequence change creates a premature translational stop signal (p.Tyr1103*) in the NPHP3 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 NPHP3-related disease. For these reasons, this variant has been classified as Pathogenic.

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