ClinVar Miner

Submissions for variant NM_001184900.3(CARD8):c.853G>T (p.Glu285Ter)

dbSNP: rs2146193028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002023623 SCV002298462 uncertain significance not provided 2021-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu235*) in the CARD8 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CARD8 cause disease. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CARD8-related conditions. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003138048 SCV003806773 uncertain significance Inflammatory bowel disease 30 2023-01-13 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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