ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.2588G>C (p.Gly863Ala)

gnomAD frequency: 0.00010  dbSNP: rs148288081
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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 RCV001891291 SCV002167066 uncertain significance Developmental and epileptic encephalopathy, 12 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 863 of the PLCB1 protein (p.Gly863Ala). This variant is present in population databases (rs148288081, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PLCB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1391037). 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.

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