Submissions for variant NM_012213.3(MLYCD):c.393C>T (p.Tyr131=)

gnomAD frequency: 0.00015  dbSNP: rs560831102

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000426138	SCV000533421	likely benign	not specified	2018-02-02	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.
Illumina Laboratory Services, Illumina	RCV001115280	SCV001273245	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001115280	SCV002387422	benign	Deficiency of malonyl-CoA decarboxylase	2025-01-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703988	SCV005219262	likely benign	not provided		criteria provided, single submitter	not provided