ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.2650G>A (p.Ala884Thr)

dbSNP: rs1274123563
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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 RCV000576285 SCV000677012 uncertain significance Developmental and epileptic encephalopathy, 12 2020-03-04 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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. This variant has not been reported in the literature in individuals with PLCB1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 884 of the PLCB1 protein (p.Ala884Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.

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