ClinVar Miner

Submissions for variant NM_032415.6(CARD11):c.367G>A (p.Gly123Ser) (rs387907352)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057931 SCV001222457 pathogenic Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 123 of the CARD11 protein (p.Gly123Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with autosomal dominant B-cell expansion with NFKB and T-cell anergy (BENTA) (PMID: 29472930, 23129749, 26861442). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 48648). This variant has been reported to affect CARD11 protein function (PMID: 23027925, 23129749, 25352053). This variant disrupts the p.Gly123 amino acid residue in CARD11. Other variant(s) that disrupt this residue have been observed in individuals with CARD11-related conditions (PMID: 25352053, 28824638), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000041969 SCV000065672 pathogenic B-cell expansion with NFKB and T-cell anergy 2012-11-19 no assertion criteria provided literature only

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