ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs)

dbSNP: rs1576682880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816986 SCV000957519 pathogenic Nephronophthisis 2023-04-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 659899). This variant is also known as c.1084_1087del. This premature translational stop signal has been observed in individual(s) with NPHP3-related conditions (PMID: 29801666). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val363Phefs*6) 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).
Molecular Biology Laboratory, Fundació Puigvert RCV001281190 SCV001425114 pathogenic Nephronophthisis 3 2020-02-01 criteria provided, single submitter research

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