ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1432+1G>C

dbSNP: rs878854628
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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 RCV000230417 SCV000288111 likely pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2016-02-09 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 10 of the SDHA gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in an individual with a SDHA-related disease. In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in SDHA are known to be pathogenic (PMID: 24781757, 22974104). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV001329182 SCV001520546 likely pathogenic Mitochondrial complex II deficiency, nuclear type 1 2020-07-20 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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