ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3126-6T>G

dbSNP: rs1405952605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596264 SCV000702998 uncertain significance not provided 2016-10-21 criteria provided, single submitter clinical testing
Invitae RCV001054695 SCV001219043 uncertain significance Nephronophthisis 2022-07-21 criteria provided, single submitter clinical testing This sequence change falls in intron 21 of the NPHP3 gene. It does not directly change the encoded amino acid sequence of the NPHP3 protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 498131). This variant has been observed in individual(s) with clinical features of NPHP3-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency).

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