ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.117CTC[11] (p.Ser57_Ser60dup)

dbSNP: rs572827902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002034921 SCV002111055 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2023-05-28 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with KCNMA1-related conditions. 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, c.126_137dup, results in the insertion of 4 amino acid(s) of the KCNMA1 protein (p.Ser57_Ser60dup), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV004038708 SCV004891444 likely benign Inborn genetic diseases 2022-05-05 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.

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