ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) (rs1484259264)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558859 SCV000638716 uncertain significance Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 2020-09-08 criteria provided, single submitter clinical testing This variant, c.31_51del, results in the deletion of 7 amino acid(s) of the KCNMA1 protein (p.Ser11_Gly17del), 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 insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with KCNMA1-related disease. ClinVar contains an entry for this variant (Variation ID: 464298). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732588 SCV000860560 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000732588 SCV001476647 likely benign not provided 2019-11-21 criteria provided, single submitter clinical testing
New York Genome Center RCV001291702 SCV001480286 uncertain significance Cerebellar atrophy, developmental delay, and seizures 2019-10-11 criteria provided, single submitter clinical testing

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