ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.970G>T (p.Glu324Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003214791 SCV003904352 pathogenic Hereditary cancer-predisposing syndrome 2022-11-17 criteria provided, single submitter clinical testing The p.E324* pathogenic mutation (also known as c.970G>T), located in coding exon 8 of the SDHA gene, results from a G to T substitution at nucleotide position 970. This changes the amino acid from a glutamic acid to a stop codon within coding exon 8. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779714 SCV004586265 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu324*) in the SDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 2486226). For these reasons, this variant has been classified as Pathogenic.

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