ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.1317G>C (p.Glu439Asp)

gnomAD frequency: 0.00003  dbSNP: rs746127346
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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 RCV000811004 SCV000951247 uncertain significance Developmental and epileptic encephalopathy, 12 2021-07-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PLCB1-related disease. This variant is present in population databases (rs746127346, ExAC 0.02%). This sequence change replaces glutamic acid with aspartic acid at codon 439 of the PLCB1 protein (p.Glu439Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. 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 tolerated, 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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