Submissions for variant NM_007289.4(MME):c.877C>T (p.Arg293Ter)

gnomAD frequency: 0.00001  dbSNP: rs764060752

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000523684	SCV000619854	likely pathogenic	not provided	2021-04-20	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV000523684	SCV002942812	pathogenic	not provided	2024-04-18	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg293*) in the MME gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MME are known to be pathogenic (PMID: 26991897). This variant is present in population databases (rs764060752, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MME-related conditions. ClinVar contains an entry for this variant (Variation ID: 451188). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic	RCV000523684	SCV005413623	likely pathogenic	not provided	2024-07-19	criteria provided, single submitter	clinical testing	PM2, PVS1