ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4052G>T (p.Arg1351Leu)

dbSNP: rs1555745467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520242 SCV000618790 likely pathogenic not provided 2017-07-05 criteria provided, single submitter clinical testing The R1352L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1352L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1352L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (R1349Q, V1350L, P1353L) have been reported in the Human Gene Mutation Database in association with CACNA1A-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Undiagnosed Diseases Network, NIH RCV003985376 SCV000746594 likely pathogenic CACNA1A-related disorder 2017-08-29 criteria provided, single submitter clinical testing

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