Submissions for variant NM_005720.4(ARPC1B):c.899_944del (p.Glu300fs)

gnomAD frequency: 0.00001  dbSNP: rs1794611030

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001953731	SCV002240530	pathogenic	not provided	2023-03-10	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu300Glyfs*7) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ARPC1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1457394). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences	RCV003418257	SCV004106267	likely pathogenic	ARPC1B-related disorder	2023-01-20	criteria provided, single submitter	clinical testing	The ARPC1B c.899_944del46 variant is predicted to result in a frameshift and premature protein termination (p.Glu300Glyfs*7). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in ARPC1B are expected to be pathogenic. This variant is interpreted as likely pathogenic.