Submissions for variant NM_004168.4(SDHA):c.1215C>T (p.Thr405=)

gnomAD frequency: 0.00003  dbSNP: rs762888704

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229253	SCV000288102	likely benign	Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5	2024-01-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001010329	SCV001170507	likely benign	Hereditary cancer-predisposing syndrome	2018-09-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Sema4, Sema4	RCV001010329	SCV002527695	likely benign	Hereditary cancer-predisposing syndrome	2021-07-13	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV004541403	SCV004762968	likely benign	SDHA-related disorder	2022-06-02	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).