ClinVar Miner

Submissions for variant NM_014625.4(NPHS2):c.378+1_378+2delinsTG

dbSNP: rs2125790074
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947036 SCV002244236 pathogenic not provided 2022-05-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is also known as c.378+1GT>TG. Disruption of this splice site has been observed in individuals with nephrotic syndrome (PMID: 25349199). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change affects a splice site in intron 2 of the NPHS2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NPHS2 are known to be pathogenic (PMID: 10742096, 14701729, 15253708, 23595123).
Baylor Genetics RCV003464312 SCV004191571 pathogenic Nephrotic syndrome, type 2 2024-03-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003464312 SCV005634212 likely pathogenic Nephrotic syndrome, type 2 2024-01-02 criteria provided, single submitter clinical testing

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