ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.1762-1G>A

dbSNP: rs2104409792
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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 RCV001874311 SCV002127784 uncertain significance Nephronophthisis 2022-08-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NPHP1-related conditions. This sequence change affects an acceptor splice site in intron 19 of the NPHP1 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1368031). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 may disrupt the consensus splice site. 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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