ClinVar Miner

Submissions for variant NM_148923.4(CYB5A):c.131A>T (p.His44Leu)

dbSNP: rs1555688659
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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 RCV000627676 SCV000883181 likely pathogenic Methemoglobinemia type 4 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Methemoglobinemia and ambiguous genitalia, autosomal recessive. The following ACMG Tag(s) were applied: PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/22170710). PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/22170710).
OMIM RCV000627676 SCV000748674 pathogenic Methemoglobinemia type 4 2018-05-17 no assertion criteria provided literature only

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