ClinVar Miner

Submissions for variant NM_013336.4(SEC61A1):c.254T>A (p.Val85Asp)

dbSNP: rs1553721236
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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 RCV000664064 SCV000787497 likely pathogenic Decreased circulating antibody level 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Hypogammaglobulinemia, Autosomal Dominant 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. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PP1-Moderate => PP1 upgraded in strength to Moderate (PMID:28782633). PS3-Moderate => PS3 downgraded in strength to Moderate (PMID:28782633).
OMIM RCV003482295 SCV004231739 pathogenic Immunodeficiency, common variable, 15 2024-01-12 no assertion criteria provided literature only

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