ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.188del (p.Gly63fs)

dbSNP: rs1388967331
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380175 SCV001578123 pathogenic MHC class II deficiency 2020-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly63Alafs*31) in the RFXAP gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with RFXAP-related conditions. Loss-of-function variants in RFXAP are known to be pathogenic (PMID: 9118943, 22390233). For these reasons, this variant has been classified as Pathogenic.

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