Submissions for variant NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) (rs748955220)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000811670	SCV000951948	uncertain significance	Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u	2019-02-21	criteria provided, single submitter	clinical testing	This sequence change replaces asparagine with aspartic acid at codon 649 of the MARS protein (p.Asn649Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs748955220, ExAC 0.02%). This variant has not been reported in the literature in individuals with MARS-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173425	SCV001336513	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing

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