ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.2624C>A (p.Pro875His)

dbSNP: rs1386644525
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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 RCV001352309 SCV001546856 uncertain significance Developmental and epileptic encephalopathy, 12 2018-04-17 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PLCB1-related disease. This sequence change replaces proline with histidine at codon 875 of the PLCB1 protein (p.Pro875His). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and histidine. This variant is not present in population databases (ExAC no frequency).

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