ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3473-1G>T

dbSNP: rs564232197
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379646 SCV001577482 likely pathogenic Nephronophthisis 2020-03-06 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NPHP4 are known to be pathogenic (PMID: 12205563, 23559409). This variant has not been reported in the literature in individuals with NPHP4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 24 of the NPHP4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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