ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup)

dbSNP: rs760628050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791584 SCV000930841 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-10-20 criteria provided, single submitter clinical testing This variant, c.51_56dup, results in the insertion of 2 amino acid(s) of the KCNMA1 protein (p.Gly19_Gly20dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with KCNMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 638907). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV003317368 SCV004021611 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing In-frame duplication of 2 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect - Brain Gene Registry RCV003128412 SCV003804781 not provided Generalized epilepsy-paroxysmal dyskinesia syndrome; Epilepsy, idiopathic generalized, susceptibility to, 16 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 07-25-2022 by Invitae . Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Philip Payne PhD, FACMI from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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