ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His)

gnomAD frequency: 0.00001  dbSNP: rs775061512
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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 RCV000684758 SCV000930068 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:27896283). PM1 : Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation.
Invitae RCV001861900 SCV002130452 uncertain significance not provided 2021-11-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 565281). This missense change has been observed in individual(s) with clinical features of primary immunodeficiency (PMID: 27896283). This variant is present in population databases (rs775061512, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 639 of the CARMIL2 protein (p.Leu639His).
OMIM RCV000684758 SCV000812275 pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency 2018-09-28 no assertion criteria provided literature only

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