ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.522+5_522+8del

dbSNP: rs1411070570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317749 SCV001508420 uncertain significance Nephronophthisis 2022-06-20 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the NPHP1 gene. It does not directly change the encoded amino acid sequence of the NPHP1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with NPHP1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Fulgent Genetics, Fulgent Genetics RCV002486252 SCV002800740 uncertain significance Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2021-10-08 criteria provided, single submitter clinical testing

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