ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) (rs140467171)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521595 SCV000617852 likely pathogenic not provided 2017-07-06 criteria provided, single submitter clinical testing The F370L variant in the MARS gene has been reported previously, in trans with another missense variant, in an infant with failure to thrive, interstitial lung and liver disease, intermittent lactic acidosis, aminoaciduria, hypothyroidism, and transfusion-dependent anemia and motor delay. Functional studies showed that F370L significantly reduced the ability of MARS to couple methionine to its cognate tRNA, leading to 18% of wild type activity (vanMeel et al., 2013). The F370L variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The F370L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. We interpret F370L as a likely pathogenic variant.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173433 SCV001336521 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000059332 SCV000105910 pathogenic Interstitial lung and liver disease 2013-10-08 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000709860 SCV000840193 not provided MARS-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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