ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1773_1774dup (p.His592fs)

dbSNP: rs1561010948
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691877 SCV000819673 likely pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2022-10-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the C-terminus of the SDHA protein. Other variant(s) that disrupt this region (p.Tyr629Leufs*14)) have been observed in individuals with SDHA-related conditions (Invitae). This suggests that this may be a clinically significant region of the protein. Experimental studies have shown that this premature translational stop signal affects SDHA function (PMID: 21858060, 23043141, 25488574). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. 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.His592Argfs*54) in the SDHA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 73 amino acid(s) of the SDHA protein.

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