ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.3292A>G (p.Met1098Val)

gnomAD frequency: 0.00001  dbSNP: rs1325949995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.

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