ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) (rs146146070)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065886 SCV001230874 uncertain significance Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2019-04-15 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 249 of the MARS protein (p.Pro249Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs146146070, ExAC 0.1%). This variant has not been reported in the literature in individuals with MARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 549700). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Institute of Human Genetics,Cologne University RCV000664250 SCV000787818 uncertain significance Distal spinal muscular atrophy 2018-04-26 no assertion criteria provided clinical testing

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