ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1664-5C>G

dbSNP: rs1211852182
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001905768 SCV002152571 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2022-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004946825 SCV005496531 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-14 criteria provided, single submitter clinical testing The c.1664-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 13 in the SDHA gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.

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