ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr)

dbSNP: rs1567626023
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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 RCV000684762 SCV000930066 likely pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency 2019-01-08 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Immunodeficiency 58, autosomal recessive. 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 : Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:29479355). PS3-Moderate : PS3 downgraded to moderate (PMID:29479355).
OMIM RCV000684762 SCV000812279 pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency 2018-09-28 no assertion criteria provided literature only

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