ClinVar Miner

Submissions for variant NM_003944.4(SELENBP1):c.1039G>T (p.Gly347Ter)

dbSNP: rs1553204817
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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 RCV000664061 SCV000787494 likely pathogenic Extra oral halitosis 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Extraoral halitosis, Autosomal Recessive inheritance. 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:29255262). PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease.
OMIM RCV000710010 SCV000840375 pathogenic Extraoral halitosis due to methanethiol oxidase deficiency 2018-10-12 no assertion criteria provided literature only

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