Submissions for variant NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter)

dbSNP: rs2108479136

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001387388	SCV001588004	pathogenic	3-methylcrotonyl-CoA carboxylase 1 deficiency	2020-02-26	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Leu402*) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 11181649, 15359379, 22642865). This variant has not been reported in the literature in individuals with MCCC1-related conditions. This variant is not present in population databases (ExAC no frequency).
PreventionGenetics, part of Exact Sciences	RCV004746363	SCV005342311	pathogenic	MCCC1-related disorder	2024-03-06	no assertion criteria provided	clinical testing	The MCCC1 c.1205T>G variant is predicted to result in premature protein termination (p.Leu402*). To our knowledge, this variant has not been reported in the literature or a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in MCCC1 are expected to be pathogenic. This variant is interpreted as pathogenic.