ClinVar Miner

Submissions for variant NM_005720.4(ARPC1B):c.323del (p.Glu108fs)

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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 RCV003706049 SCV004472833 pathogenic not provided 2024-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu108Glyfs*12) 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). This variant is present in population databases (rs769800244, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ARPC1B-related conditions. For these reasons, this variant has been classified as Pathogenic.

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