ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.39_40insAC (p.Ala14fs)

dbSNP: rs2138212278
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844513 SCV002103539 likely pathogenic MHC class II deficiency 2022-02-18 criteria provided, single submitter clinical testing Variant summary: RFXAP c.39_40insAC (p.Ala14ThrfsX12) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 7372 control chromosomes (gnomAD). To our knowledge, no occurrence of c.39_40insAC in individuals affected with Bare Lymphocyte Syndrome 2 - RFXAP Related and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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