ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.365C>A (p.Thr122Asn) (rs201007223)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554258 SCV000655639 uncertain significance Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2017-12-08 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 122 of the MARS protein (p.Thr122Asn). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and asparagine. This variant is present in population databases (rs201007223, ExAC 0.01%) but has not been reported in the literature in individuals with a MARS-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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