ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.29C>T (p.Ala10Val)

dbSNP: rs1568564198
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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 RCV001979025 SCV002227489 uncertain significance Developmental and epileptic encephalopathy, 12 2021-07-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 10 of the PLCB1 protein (p.Ala10Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with PLCB1-related conditions.

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