ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.436del (p.Ser146fs)

dbSNP: rs1940156340
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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 RCV001217259 SCV001389093 pathogenic Nephronophthisis 2019-06-04 criteria provided, single submitter clinical testing 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 conditions. Loss-of-function variants in NPHP3 are known to be pathogenic (PMID: 18371931, 23559409). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser146Valfs*3) in the NPHP3 gene. It is expected to result in an absent or disrupted protein product.

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