Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001553547 | SCV001774436 | uncertain significance | not specified | 2021-07-20 | criteria provided, single submitter | clinical testing | Variant summary: SLC12A6 c.1A>G (p.Met1Val) alters the initiation codon and is predicted to result either in absence of the protein or truncation of the encoded protein due to translation initiation at a downstream codon. The next downstream putative in-frame start codon (Methionine) is located at p.Met10 in exon 1 of the SLC12A6 gene. However, without further functional evidence, its clinical consequence is not clear. Two of three in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 249344 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.1A>G in individuals affected with Andermann Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic until additional clinical reports supported by functional studies are identified. |
| Labcorp Genetics |
RCV002568989 | SCV003309497 | uncertain significance | not provided | 2022-03-05 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1192189). This variant has not been reported in the literature in individuals affected with SLC12A6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the SLC12A6 mRNA. The next in-frame methionine is located at codon 10. |