Submissions for variant NM_012213.3(MLYCD):c.1464A>G (p.Gln488=)

gnomAD frequency: 0.00870  dbSNP: rs1127368

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000291860	SCV000399113	likely benign	Deficiency of malonyl-CoA decarboxylase	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000431509	SCV000525461	benign	not specified	2016-04-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000291860	SCV000632628	benign	Deficiency of malonyl-CoA decarboxylase	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000291860	SCV004564000	benign	Deficiency of malonyl-CoA decarboxylase	2023-10-16	criteria provided, single submitter	clinical testing