ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1202A>T (p.Asp401Val)

dbSNP: rs1562490891
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693542 SCV000821415 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2018-06-09 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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"). This variant has not been reported in the literature in individuals with CARD11-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with valine at codon 401 of the CARD11 protein (p.Asp401Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine.

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