ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.757_758del (p.Val253fs)

dbSNP: rs1553998254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576361 SCV000677850 likely pathogenic Paragangliomas 5 2016-11-28 criteria provided, single submitter clinical testing
Invitae RCV001381444 SCV001579827 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2022-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 487408). This premature translational stop signal has been observed in individual(s) with pituitary adenoma (PMID: 32621582). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val253Cysfs*67) 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).

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