ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1700-1G>A

dbSNP: rs1584051498
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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 RCV000797335 SCV000936888 uncertain significance Charcot-Marie-Tooth disease type 2 2018-12-07 criteria provided, single submitter clinical testing 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GARS cause disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with GARS-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 13 of the GARS gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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