ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)

gnomAD frequency: 0.00001  dbSNP: rs753338285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000850361 SCV000992542 likely pathogenic MHC class II deficiency 2019-02-25 criteria provided, single submitter research ACMG codes: PVS1, PM2
Invitae RCV000850361 SCV002165499 pathogenic MHC class II deficiency 2021-11-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 689614). This variant has not been reported in the literature in individuals affected with RFXANK-related conditions. This variant is present in population databases (rs753338285, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ile152Profs*28) in the RFXANK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RFXANK are known to be pathogenic (PMID: 10803838, 16166641, 21908431).
Baylor Genetics RCV000850361 SCV003835759 likely pathogenic MHC class II deficiency 2022-09-16 criteria provided, single submitter clinical testing

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