ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) (rs760628050)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 2020-10-19 criteria provided, single submitter clinical testing This variant, c.54_56dup, results in the insertion of 1 amino acid(s) to the KCNMA1 protein (p.Gly20dup), but otherwise preserves the integrity of the reading frame. While this variant is present in population databases (rs760628050), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals 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.

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