Submissions for variant NM_004168.4(SDHA):c.1461C>T (p.Asn487=)

gnomAD frequency: 0.00001  dbSNP: rs187540602

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000462565	SCV000563690	likely benign	Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5	2025-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568309	SCV000674953	likely benign	Hereditary cancer-predisposing syndrome	2016-03-23	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	RCV000568309	SCV002527715	likely benign	Hereditary cancer-predisposing syndrome	2021-12-18	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003431042	SCV004151959	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	SDHA: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV003431042	SCV005256859	likely benign	not provided		criteria provided, single submitter	not provided