ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp)

dbSNP: rs1275025158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200623 SCV001371631 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001267130 SCV001445311 uncertain significance Inborn genetic diseases 2021-11-17 criteria provided, single submitter clinical testing The c.4300C>T (p.R1434W) alteration is located in coding exon 27 of the CACNA1A gene. This alteration results from a C to T substitution at nucleotide position 4300, causing the arginine (R) at amino acid position 1434 to be replaced by a tryptophan (W). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) RCV003387972 SCV003920747 uncertain significance Spinocerebellar ataxia type 6 2023-04-27 criteria provided, single submitter research

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