ClinVar Miner

Submissions for variant NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)

gnomAD frequency: 0.00009  dbSNP: rs371709824
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000627077 SCV000883241 uncertain significance Developmental and epileptic encephalopathy, 63 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Epileptic encephalopathy, early infantile, 63, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Labcorp Genetics (formerly Invitae), Labcorp RCV001320840 SCV001511643 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 128 of the CPLX1 protein (p.Leu128Met). This variant is present in population databases (rs371709824, gnomAD 0.2%). This missense change has been observed in individual(s) with severe infantile myoclonic epilepsy and intellectual disability (PMID: 28422131). ClinVar contains an entry for this variant (Variation ID: 523650). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000627077 SCV002026338 likely pathogenic Developmental and epileptic encephalopathy, 63 2017-06-25 criteria provided, single submitter research
OMIM RCV000627077 SCV000747887 pathogenic Developmental and epileptic encephalopathy, 63 2020-11-17 no assertion criteria provided literature only

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