ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.664C>G (p.Arg222Gly)

dbSNP: rs990536521
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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 RCV001057348 SCV001221835 uncertain significance Developmental and epileptic encephalopathy, 12 2020-02-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PLCB1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 222 of the PLCB1 protein (p.Arg222Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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