Submissions for variant NM_004168.4(SDHA):c.1261-5delinsGAAA

dbSNP: rs1553999701

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV005208593	SCV000771262	likely benign	Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5	2022-03-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001010602	SCV001170827	likely benign	Hereditary cancer-predisposing syndrome	2019-12-11	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.
GeneDx	RCV002461960	SCV002757161	uncertain significance	not provided	2022-05-26	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.