ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.2278C>T (p.Arg760Cys)

dbSNP: rs1194618095
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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 RCV000576262 SCV000676950 uncertain significance Developmental and epileptic encephalopathy, 12 2019-10-30 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PLCB1-related disease. This sequence change replaces arginine with cysteine at codon 760 of the PLCB1 protein (p.Arg760Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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