ClinVar Miner

Submissions for variant NM_032415.6(CARD11):c.1975G>A (p.Val659Met) (rs78443994)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688408 SCV000816018 uncertain significance Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy 2019-09-17 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 659 of the CARD11 protein (p.Val659Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs78443994, ExAC 0.2%). This variant has been observed in an individual affected with sinopulmonary/skin infections and pneumonia (PMID: 30170123). ClinVar contains an entry for this variant (Variation ID: 133793). This variant has been reported not to substantially affect CARD11 protein function (PMID: 30170123). 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.
ITMI RCV000120444 SCV000084596 not provided not specified 2013-09-19 no assertion provided reference population

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