ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)

gnomAD frequency: 0.00001  dbSNP: rs771328239
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462116 SCV000553839 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg329*) 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: 412328). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001019810 SCV001181215 pathogenic Hereditary cancer-predisposing syndrome 2022-09-26 criteria provided, single submitter clinical testing The p.R329* pathogenic mutation (also known as c.985C>T), located in coding exon 8 of the SDHA gene, results from a C to T substitution at nucleotide position 985. This changes the amino acid from an arginine 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.

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