ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.532G>A (p.Ala178Thr)

dbSNP: rs2144657245
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001543133 SCV001749121 uncertain significance Spinocerebellar ataxia type 42 2021-07-12 criteria provided, single submitter clinical testing The sequence variant NM_018896.4:c.532G>A, p.(Ala178Thr) in CACNA1G is absent from databases and has not been reported in the literature. It was found in 3 affected members in 2 generations in a family which was initially described as having CMT. However, one of the carriers shows a broader phenotype with saccadic pursuit and mild ataxia. There is no information on the exact clinical picture of the relatives. We therefore classified this variant as a "variant of uncertain significance".

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