ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.466del (p.Tyr156fs)

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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 RCV003177580 SCV003866426 pathogenic Hereditary cancer-predisposing syndrome 2023-03-07 criteria provided, single submitter clinical testing The c.466delT pathogenic mutation, located in coding exon 5 of the SDHA gene, results from a deletion of one nucleotide at nucleotide position 466, causing a translational frameshift with a predicted alternate stop codon (p.Y156Mfs*70). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 RCV003779566 SCV004578443 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-08-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2452806). 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 creates a premature translational stop signal (p.Tyr156Metfs*70) 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).

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