ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)

dbSNP: rs572827902
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536419 SCV000638697 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734743 SCV000862909 likely benign not specified 2018-08-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000734743 SCV001476646 benign not specified 2020-02-28 criteria provided, single submitter clinical testing
GeneDx RCV001796105 SCV002032527 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing Reported previously as a variant of uncertain significance in a patient with clinically diagnosed Dravet syndrome; however, the patient also harbored variants of uncertain significance in two other genes (Lee et al., 2020); In-frame deletion of 2 amino acids in a repetitive region with no known function; This variant is associated with the following publications: (PMID: 29581464, 33067208)
PreventionGenetics, part of Exact Sciences RCV004553192 SCV004116719 uncertain significance KCNMA1-related disorder 2022-11-17 criteria provided, single submitter clinical testing The KCNMA1 c.132_137del6 variant is predicted to result in an in-frame deletion (p.Ser59_Ser60del). This variant was reported as a variant of uncertain significance in an individual with Dravet syndrome; however, this individual had variants in two other genes (Lee et al 2020. PubMed ID: 33067208). This variant is reported in 0.16% of alleles in individuals of Latino descent in gnomAD which is likely too high for a dominant pathogenic variant (http://gnomad.broadinstitute.org/variant/10-79397263-AGAGGAG-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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