ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)

gnomAD frequency: 0.00270  dbSNP: rs28390202
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723683 SCV000113652 uncertain significance not provided 2017-12-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194272 SCV000248527 likely benign not specified 2015-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081971 SCV000561029 benign Developmental and epileptic encephalopathy, 12 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313795 SCV000848173 likely benign Inborn genetic diseases 2018-12-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics RCV000723683 SCV001145045 likely benign not provided 2019-05-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000723683 SCV001153428 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing PLCB1: BP4, BS2
Illumina Laboratory Services, Illumina RCV001081971 SCV001300273 uncertain significance Developmental and epileptic encephalopathy, 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000723683 SCV001872931 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001081971 SCV002030018 benign Developmental and epileptic encephalopathy, 12 2021-09-05 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001081971 SCV003924140 likely benign Developmental and epileptic encephalopathy, 12 2021-03-30 criteria provided, single submitter clinical testing PLCB1 NM_015192.3 exon 32 p.Leu1184Phe (c.3550C>T): This variant has not been reported in the literature but is present in 0.4% (297/64568) of European alleles in the Genome Aggregation Database, including 2 homozygotes (https://gnomad.broadinstitute.org/variant/20-8881748-C-T?dataset=gnomad_r3). This variant is present in ClinVar, with several labs classifying this variant as benign or likely benign (Variation ID:95688). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore this variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences RCV003915089 SCV004736137 likely benign PLCB1-related disorder 2022-02-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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