ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.615del (p.Asn205fs)

dbSNP: rs2057975002
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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 RCV001224790 SCV001397012 uncertain significance MHC class II deficiency 2019-05-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RFXAP gene (p.Asn205Lysfs*23). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 68 amino acids of the RFXAP protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RFXAP-related conditions. This variant disrupts the C-terminus of the RFXAP protein. Other variant(s) that disrupt this region (p.Gln251*) have been observed in individuals with RFXAP-related conditions (PMID: 12498778). This suggests that this may be a clinically significant region of the protein. 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.

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