ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3003del (p.Phe1001fs)

dbSNP: rs1560002113
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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 RCV001057754 SCV001222264 pathogenic Nephronophthisis 2022-02-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1001Leufs*61) in the NPHP3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHP3 are known to be pathogenic (PMID: 18371931, 23559409). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with nephronophthisis and renal-hepatic-pancreatic dysplasia (PMID: 23686967, 30002499). ClinVar contains an entry for this variant (Variation ID: 853024). For these reasons, this variant has been classified as Pathogenic.

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