Submissions for variant NM_004990.4(MARS1):c.823G>A (p.Val275Ile) (rs1017657436)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000698443	SCV000827108	uncertain significance	Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u	2018-05-18	criteria provided, single submitter	clinical testing	This sequence change replaces valine with isoleucine at codon 275 of the MARS protein (p.Val275Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MARS-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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.

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