Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001046874 | SCV001210792 | uncertain significance | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2023-08-24 | 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 844105). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 12 of the SDHA gene. It does not directly change the encoded amino acid sequence of the SDHA protein. It affects a nucleotide within the consensus splice site. |
Baylor Genetics | RCV003473632 | SCV004200662 | likely pathogenic | Dilated cardiomyopathy 1GG | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004950164 | SCV005496532 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-07-16 | criteria provided, single submitter | clinical testing | The c.1663+5G>C intronic variant results from a G to C substitution 5 nucleotides after coding exon 12 in the SDHA gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Based on the available evidence, the clinical significance of this variant remains unclear. |