Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002229352 | SCV000287830 | uncertain significance | Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 | 2023-09-21 | criteria provided, single submitter | clinical testing | This sequence change affects codon 17 of the SDHD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SDHD protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs199890548, gnomAD 0.006%). 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. 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: 239474). This variant has not been reported in the literature in individuals affected with SDHD-related conditions. |
| Ambry Genetics | RCV004668867 | SCV005161257 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-11 | criteria provided, single submitter | clinical testing | The c.51A>C variant (also known as p.R17R), located in coding exon 1 of the SDHD gene, results from an A to C substitution at nucleotide position 51. This nucleotide substitution does not change the arginine at codon 17. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site and may result in the creation or strengthening of a novel splice donor site. Based on the available evidence, the clinical significance of this variant remains unclear. |