ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1663+5G>C

dbSNP: rs1736797211
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.

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