ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.656A>C (p.Lys219Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003482476 SCV004228200 uncertain significance not provided 2022-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003745605 SCV004507174 uncertain significance Charcot-Marie-Tooth disease type 2 2022-10-31 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 219 of the GARS protein (p.Lys219Thr). This variant is present in population databases (rs774338137, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GARS-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: "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.
Ambry Genetics RCV004634271 SCV005124074 uncertain significance not specified 2024-06-07 criteria provided, single submitter clinical testing The c.656A>C (p.K219T) alteration is located in exon 5 (coding exon 5) of the GARS gene. This alteration results from a A to C substitution at nucleotide position 656, causing the lysine (K) at amino acid position 219 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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