ClinVar Miner

Submissions for variant NM_005720.4(ARPC1B):c.739_743del (p.Leu247fs)

dbSNP: rs760191638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027546 SCV001190116 pathogenic Combined immunodeficiency 2019-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003768923 SCV004640828 pathogenic not provided 2023-09-30 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: 827687). This premature translational stop signal has been observed in individual(s) with clinical features of ARPC1B-related conditions (PMID: 32499645). This variant is present in population databases (rs760191638, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu247Glyfs*25) in the ARPC1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARPC1B are known to be pathogenic (PMID: 27965109, 28368018, 29127144).
OMIM RCV001251027 SCV001426420 pathogenic Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 2020-08-03 no assertion criteria provided literature only

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