ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1697A>G (p.Tyr566Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004307125 SCV003968172 uncertain significance not specified 2023-04-18 criteria provided, single submitter clinical testing The c.1697A>G (p.Y566C) alteration is located in exon 13 (coding exon 13) of the GARS gene. This alteration results from a A to G substitution at nucleotide position 1697, causing the tyrosine (Y) at amino acid position 566 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779947 SCV004630650 uncertain significance Charcot-Marie-Tooth disease type 2 2023-11-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 566 of the GARS protein (p.Tyr566Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 2538524). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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