ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met)

gnomAD frequency: 0.00030  dbSNP: rs184436336
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000285752 SCV000435389 uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000702174 SCV000831015 uncertain significance Developmental and epileptic encephalopathy, 12 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 857 of the PLCB1 protein (p.Thr857Met). This variant is present in population databases (rs184436336, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with PLCB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 339511). 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. 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.
Ambry Genetics RCV002314065 SCV000849172 likely benign Inborn genetic diseases 2018-06-14 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.
Eurofins Ntd Llc (ga) RCV000732639 SCV000860614 uncertain significance not provided 2018-04-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000702174 SCV001526516 uncertain significance Developmental and epileptic encephalopathy, 12 2018-04-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252101 SCV002523412 likely benign See cases 2019-12-25 criteria provided, single submitter clinical testing ACMG classification criteria: BP1, BP4

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