ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3820G>T (p.Gly1274Ter)

dbSNP: rs1939045407
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232674 SCV001405240 pathogenic Nephronophthisis 2023-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1274*) in the NPHP3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 57 amino acid(s) of the NPHP3 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 959343). This variant disrupts a region of the NPHP3 protein in which other variant(s) (p.Gly1275del) have been determined to be pathogenic (PMID: 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. For these reasons, this variant has been classified as Pathogenic.

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