ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3911del (p.His1304fs)

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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 RCV005147708 SCV005771045 uncertain significance Nephronophthisis 2024-07-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His1304Leufs*102) in the NPHP4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 123 amino acid(s) of the NPHP4 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 NPHP4-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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