ClinVar Miner

Submissions for variant NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg)

dbSNP: rs1558091788
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000721160 SCV000899127 likely pathogenic Nephrotic syndrome, type 18 2019-01-10 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Nephrotic syndrome 18, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS3 => Well-established functional studies show a deleterious effect (PMID:30179222). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product.
OMIM RCV000721160 SCV000852073 pathogenic Nephrotic syndrome, type 18 2018-11-12 no assertion criteria provided literature only

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