ClinVar Miner

Submissions for variant NM_201589.4(MAFA):c.191C>T (p.Ser64Phe)

dbSNP: rs1554635488
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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 RCV000590882 SCV000883306 likely pathogenic Islet cell adenomatosis 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Insulinomatosis and diabetes mellitus; insdm, autosomal dominant. The following ACMG Tag(s) were applied: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP1-Moderate => PP1 upgraded in strength to Moderate (https://www.ncbi.nlm.nih.gov/pubmed/29339498). PS3-Moderate => PS3 downgraded in strength to Moderate (https://www.ncbi.nlm.nih.gov/pubmed/29339498).
OMIM RCV000590882 SCV000700085 pathogenic Islet cell adenomatosis 2018-03-19 no assertion criteria provided literature only

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