ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.2015T>C (p.Ile672Thr)

dbSNP: rs1554340824
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550518 SCV000657694 uncertain significance Charcot-Marie-Tooth disease type 2 2017-05-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 672 of the GARS protein (p.Ile672Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a GARS-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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on GARS function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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