ClinVar Miner

Submissions for variant NM_003120.3(SPI1):c.328C>T (p.Gln110Ter)

dbSNP: rs2142884393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001819971 SCV002540182 pathogenic Agammaglobulinemia 10, autosomal dominant 2022-06-22 criteria provided, single submitter curation This variant is interpreted as pathogenic for Agammaglobulinemia 10, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Assumed de novo, but without confirmation of paternity and maternity (PM6); Predicted nullvariant in a gene where LOF is a known mechanism of disease (PVS1 downgraded to strong); Well-established functional studies show a deleterious effect (PS3).
Neil Romberg Laboratory, Children's Hospital of Philadelphia RCV001353142 SCV001451931 pathogenic PU.1-mutated agammaglobulinemia 2020-12-18 no assertion criteria provided research
OMIM RCV001819971 SCV002064290 pathogenic Agammaglobulinemia 10, autosomal dominant 2022-01-25 no assertion criteria provided literature only

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