Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000260147 | SCV000343001 | uncertain significance | not provided | 2016-07-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001044457 | SCV001208255 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003235180 | SCV003934736 | uncertain significance | not specified | 2023-05-01 | criteria provided, single submitter | clinical testing | Variant summary: CACNA1A c.6773C>T (p.Ala2258Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 197196 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.6773C>T in individuals affected with Epileptic Encephalopathy, Early Infantile, 42 and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters have assessed the variant since 2014: one classified the variant as likely benign, and one as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |