ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1094_1098del (p.Leu365fs)

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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 RCV002644106 SCV003521572 pathogenic Nephronophthisis 2022-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is present in population databases (rs750728720, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Leu365Tyrfs*14) 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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