ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del)

dbSNP: rs754606765
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173279 SCV000224376 likely benign not specified 2016-06-19 criteria provided, single submitter clinical testing
Invitae RCV000542633 SCV000638703 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-01-23 criteria provided, single submitter clinical testing This variant, c.162_173del, results in the deletion of 4 amino acid(s) of the KCNMA1 protein (p.Ser57_Ser60del), 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: 193230). 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 RCV001709510 SCV001938034 benign not provided 2018-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917596 SCV004742997 likely benign KCNMA1-related condition 2020-02-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GenomeConnect - Invitae Patient Insights Network RCV003483559 SCV004228821 not provided Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-29-2021 by Lab 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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