ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2475+3A>G

gnomAD frequency: 0.00002  dbSNP: rs201981598
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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 RCV002040772 SCV002300789 uncertain significance Nephronophthisis 2021-11-08 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the NPHP3 gene. It does not directly change the encoded amino acid sequence of the NPHP3 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201981598, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with NPHP3-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 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.
Fulgent Genetics, Fulgent Genetics RCV005025641 SCV005663577 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2024-01-10 criteria provided, single submitter clinical testing

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