ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3787del (p.Thr1263fs)

dbSNP: rs2107961294
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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 RCV002037761 SCV002235535 pathogenic Nephronophthisis 2021-11-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NPHP3 protein in which other variant(s) (p.Gly1275del) have been determined to be pathogenic (PMID: 10631142, 12872122). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1263Hisfs*2) in the NPHP3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 68 amino acid(s) of the NPHP3 protein.

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