ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.438G>A (p.Met146Ile)

dbSNP: rs1989165148
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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 RCV001348888 SCV001543212 uncertain significance Developmental and epileptic encephalopathy, 12 2021-09-21 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with PLCB1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 146 of the PLCB1 protein (p.Met146Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine.

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