ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.352C>T (p.Arg118Trp)

gnomAD frequency: 0.00019  dbSNP: rs151196994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173441 SCV001336530 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002240746 SCV002509618 uncertain significance Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2023-05-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 917041). This variant has not been reported in the literature in individuals affected with MARS-related conditions. This variant is present in population databases (rs151196994, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 118 of the MARS protein (p.Arg118Trp).
Ambry Genetics RCV002462343 SCV002755055 uncertain significance Inborn genetic diseases 2019-11-21 criteria provided, single submitter clinical testing The p.R118W variant (also known as c.352C>T), located in coding exon 4 of the MARS gene, results from a C to T substitution at nucleotide position 352. The arginine at codon 118 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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