ClinVar Miner

Submissions for variant NM_020401.4(NUP107):c.303G>A (p.Met101Ile)

dbSNP: rs730882216
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000721164 SCV000899125 pathogenic Galloway-Mowat syndrome 7 2019-07-09 criteria provided, single submitter curation This variant is interpreted as a Pathogenic for Galloway-Mowat syndrome 7. 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). PP1-Strong => PP1 upgraded in strength to Strong (PMID:28280135; 30179222; 25558065). PM3 =>Multiple unrelated affected individuals homozygous for the variant (PMID:28280135; 30179222; 25558065; 28117080)
CeGaT Center for Human Genetics Tuebingen RCV001093320 SCV001250244 pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000162125 SCV000196410 likely pathogenic Global developmental delay; Light complexion; Early onset focal segmental glomerulosclerosis 2014-12-01 no assertion criteria provided research
OMIM RCV000721164 SCV000852077 pathogenic Galloway-Mowat syndrome 7 2015-01-13 no assertion criteria provided literature only

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