Submissions for variant NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)

gnomAD frequency: 0.00002  dbSNP: rs529232938

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV000106307	SCV001438949	likely pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome		criteria provided, single submitter	clinical testing
Invitae	RCV000106307	SCV003440121	pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2022-12-02	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: 120184). This premature translational stop signal has been observed in individual(s) with 3-methylglutaconic aciduria (PMID: 23707711, 31251474). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs529232938, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg68*) in the SERAC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SERAC1 are known to be pathogenic (PMID: 22683713).
Revvity Omics, Revvity	RCV000106307	SCV003825546	pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2023-02-17	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000106307	SCV004801249	pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2024-03-14	criteria provided, single submitter	research
OMIM	RCV000106307	SCV000143766	pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2013-09-01	no assertion criteria provided	literature only