ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1del (p.Met1fs)

dbSNP: rs1085307796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490141 SCV000577314 pathogenic not provided 2022-01-12 criteria provided, single submitter clinical testing Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26722403)
Labcorp Genetics (formerly Invitae), Labcorp RCV001046092 SCV001209980 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-08-17 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the SDHA mRNA. The next in-frame methionine is located at codon 114. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with paraganglioma or gastrointestinal stromal tumor (PMID: 26722403, 28384794; Invitae). ClinVar contains an entry for this variant (Variation ID: 426781). For these reasons, this variant has been classified as Pathogenic.

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