Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001067906 | SCV001232990 | uncertain significance | Developmental and epileptic encephalopathy, 12 | 2021-11-25 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1098 of the PLCB1 protein (p.Met1098Val). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 861390). This variant has not been reported in the literature in individuals affected with PLCB1-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Ambry Genetics | RCV002554531 | SCV003662347 | uncertain significance | Inborn genetic diseases | 2022-11-09 | criteria provided, single submitter | clinical testing | The c.3292A>G (p.M1098V) alteration is located in exon 30 (coding exon 30) of the PLCB1 gene. This alteration results from a A to G substitution at nucleotide position 3292, causing the methionine (M) at amino acid position 1098 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |