ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter)

gnomAD frequency: 0.00001  dbSNP: rs775612958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001328313 SCV002208019 pathogenic Nephronophthisis 2022-02-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1256*) in the NPHP4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHP4 are known to be pathogenic (PMID: 12205563, 23559409). This variant is present in population databases (rs775612958, gnomAD 0.002%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 829828). This premature translational stop signal has been observed in individual(s) with NPHP4-related conditions (PMID: 26489029, 31810733). It has also been observed to segregate with disease in related individuals.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029764 SCV001192542 likely pathogenic Nephronophthisis 4 2019-04-05 no assertion criteria provided clinical testing
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328313 SCV001449366 pathogenic Nephronophthisis 2014-05-27 no assertion criteria provided clinical testing This patient is heterozygous for a novel pathogenic variant, c.3766C>T, in the NPHP4 gene. This variant creates a premature stop codon p.(Gln1256*), and may result in a null allele due to nonsense-mediated mRNA decay. This variant is considered to be pathogenic.

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