ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1555+3_1555+6del

dbSNP: rs2058143459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197887 SCV001368670 uncertain significance Migraine, familial hemiplegic, 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
GeneDx RCV001773449 SCV002001510 uncertain significance not provided 2021-01-08 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
MGZ Medical Genetics Center RCV002290631 SCV002580204 uncertain significance Developmental and epileptic encephalopathy, 42 2021-08-26 criteria provided, single submitter clinical testing

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