ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.1643A>T (p.Gln548Leu)

gnomAD frequency: 0.00001  dbSNP: rs1158119382
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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 RCV002006269 SCV002273229 uncertain significance Developmental and epileptic encephalopathy, 12 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 548 of the PLCB1 protein (p.Gln548Leu). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PLCB1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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