ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs)

dbSNP: rs771215577
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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 RCV000464051 SCV000552113 pathogenic Nephronophthisis 2022-11-10 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: 411105). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is present in population databases (rs771215577, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser1053Ilefs*3) 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).

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