ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.322_323del (p.Asn108fs)

dbSNP: rs2126546657
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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 RCV001931700 SCV002208839 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-08-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn108Cysfs*53) 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: 1436702). For these reasons, this variant has been classified as Pathogenic.
Sema4, Sema4 RCV002259153 SCV002527744 likely pathogenic Hereditary cancer-predisposing syndrome 2022-02-05 criteria provided, single submitter curation

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