ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2142T>A (p.Ala714=)

gnomAD frequency: 0.00026  dbSNP: rs199912631
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000349584 SCV000345570 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000557261 SCV000636137 uncertain significance Nephronophthisis 2025-02-03 criteria provided, single submitter clinical testing This sequence change affects codon 714 of the NPHP4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NPHP4 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs199912631, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 290903). 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.
PreventionGenetics, part of Exact Sciences RCV004543143 SCV004791977 likely benign NPHP4-related disorder 2019-04-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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