ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.2042A>G (p.Lys681Arg)

gnomAD frequency: 0.00001  dbSNP: rs776660417
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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 RCV002038362 SCV002308027 uncertain significance Developmental and epileptic encephalopathy, 12 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 681 of the PLCB1 protein (p.Lys681Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs776660417, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with PLCB1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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