ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002472103 SCV002768511 uncertain significance Developmental and epileptic encephalopathy, 42 2019-08-28 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_001127221.1(CACNA1A):c.1106G>A in exon 8 of 47 of the CACNA1A gene. This substitution is predicted to create a minor amino acid change from argnine to glutamine at position 369 of the protein, NP_001120693.1(CACNA1A):p.(Arg369Gln). The arginine at this position has high conservation (100 vertebrates, UCSC), and is located within the ion transport functional domain. In silico software predicts this variant to be disease causing (Polyphen, SIFT, CADD, Mutation Taster). The variant is not present in the gnomAD population database. The variant has not been previously reported in a clinical testing setting. Based on information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).
GeneDx RCV004593034 SCV005080257 uncertain significance not provided 2023-08-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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