ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1394G>A (p.Arg465Gln)

gnomAD frequency: 0.00002  dbSNP: rs138277996
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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 RCV000865554 SCV001006542 benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011316 SCV001171621 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-07 criteria provided, single submitter clinical testing The p.R465Q variant (also known as c.1394G>A), located in coding exon 10 of the SDHA gene, results from a G to A substitution at nucleotide position 1394. The arginine at codon 465 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001547986 SCV001767824 uncertain significance not provided 2024-02-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 30616628, 30680959, 26928227, 23849264, 37312221)

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