ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.267T>A (p.Cys89Ter)

dbSNP: rs1579381753
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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 RCV001016312 SCV001177256 pathogenic Hereditary cancer-predisposing syndrome 2019-03-05 criteria provided, single submitter clinical testing The p.C89* pathogenic mutation (also known as c.267T>A), located in coding exon 3 of the SDHA gene, results from a T to A substitution at nucleotide position 267. This changes the amino acid from a cysteine to a stop codon within coding exon 3. 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 RCV001221035 SCV001393057 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys89*) 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: 821669). For these reasons, this variant has been classified as Pathogenic.

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