ClinVar Miner

Submissions for variant NM_005720.4(ARPC1B):c.308G>A (p.Arg103His)

gnomAD frequency: 0.00001  dbSNP: rs11556758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333444 SCV001526016 uncertain significance Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 2018-03-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002542862 SCV002981378 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 103 of the ARPC1B protein (p.Arg103His). This variant is present in population databases (rs11556758, gnomAD 0.006%). 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: 988854). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ARPC1B protein function with a negative predictive value of 80%. 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.
Birmingham Platelet Group; University of Birmingham RCV001270567 SCV001450866 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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