ClinVar Miner

Submissions for variant NM_018960.6(GNMT):c.469C>T (p.Arg157Trp)

gnomAD frequency: 0.00068  dbSNP: rs142613217
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002095733 SCV002384644 likely benign not provided 2024-11-14 criteria provided, single submitter clinical testing
GeneDx RCV002095733 SCV002757191 uncertain significance not provided 2022-11-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed as a single heterozygous variant in a patient with mitochondrial DNA depletion syndrome in published literature, although this patient was also homozygous for a variant in the DGUOK gene that the authors considered causative of the phenotype (Mudd et al., 2012); This variant is associated with the following publications: (PMID: 22137549)
Breakthrough Genomics, Breakthrough Genomics RCV002095733 SCV005223785 likely benign not provided criteria provided, single submitter not provided

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