ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.2708C>A (p.Thr903Lys)

dbSNP: rs775341189
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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 RCV000648420 SCV000770240 uncertain significance Developmental and epileptic encephalopathy, 12 2019-04-25 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 903 of the PLCB1 protein (p.Thr903Lys). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PLCB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 538891). 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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