ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del)

dbSNP: rs759331923
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726802 SCV000571388 likely benign not provided 2021-10-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726802 SCV000703147 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367644 SCV002661659 likely benign Inborn genetic diseases 2018-10-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003985364 SCV004115101 uncertain significance CACNA1A-related disorder 2022-12-22 criteria provided, single submitter clinical testing The CACNA1A c.6648_6656del9 variant is predicted to result in an in-frame deletion (p.His2217_His2219del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-13319693-ATGGTGGTGG-A). 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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