ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.600+1G>T

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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 RCV004799852 SCV005422329 likely pathogenic MHC class II deficiency 2024-10-14 criteria provided, single submitter clinical testing Variant summary: RFXAP c.600+1G>T is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing and loss of RFXAP function. The variant was absent in 249216 control chromosomes. To our knowledge, no occurrence of c.600+1G>T in individuals affected with Bare Lymphocyte Syndrome 2 - RFXAP Related and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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