ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup)

dbSNP: rs760628050
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173275 SCV000224372 likely benign not specified 2016-04-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000173275 SCV000613873 uncertain significance not specified 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV000548229 SCV000638721 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-01-30 criteria provided, single submitter clinical testing This variant, c.54_56dup, results in the insertion of 1 amino acid(s) of the KCNMA1 protein (p.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: 193225). 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 RCV001568924 SCV001792883 uncertain significance not provided 2023-07-13 criteria provided, single submitter clinical testing In-frame duplication of 1 amino acid in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001568924 SCV002497047 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing KCNMA1: BP3, BS2
Ambry Genetics RCV002516582 SCV003712188 likely benign Inborn genetic diseases 2021-03-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
GenomeConnect - Invitae Patient Insights Network RCV001535601 SCV001749611 not provided Generalized epilepsy-paroxysmal dyskinesia syndrome; Infantile epileptic dyskinetic encephalopathy no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 09-24-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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