ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter)

dbSNP: rs1307665893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037896 SCV002233849 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2022-06-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr211*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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).
Ambry Genetics RCV002361297 SCV002657288 pathogenic Hereditary cancer-predisposing syndrome 2021-06-04 criteria provided, single submitter clinical testing The p.Y211* pathogenic mutation (also known as c.633T>G), located in coding exon 6 of the SDHA gene, results from a T to G substitution at nucleotide position 633. This changes the amino acid from a tyrosine to a stop codon within coding exon 6. 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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