ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2142T>A (p.Ala714=) (rs199912631)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000349584 SCV000345570 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
Invitae RCV000557261 SCV000636137 uncertain significance Nephronophthisis 2019-12-16 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. This variant is present in population databases (rs199912631, ExAC 0.07%). This variant has not been reported in the literature in individuals with NPHP4-related disease. 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 may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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