ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1905G>A (p.Ser635=)

gnomAD frequency: 0.00001  dbSNP: rs773889809
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042392 SCV001206070 uncertain significance Charcot-Marie-Tooth disease type 2 2023-10-15 criteria provided, single submitter clinical testing This sequence change affects codon 635 of the GARS mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GARS protein. This variant is present in population databases (rs773889809, gnomAD 0.009%). 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: 694995). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Athena Diagnostics RCV003482321 SCV004229653 uncertain significance not provided 2023-08-18 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools yielded inconclusive predictions regarding the effect of this variant on RNA splicing.
GeneDx RCV003482321 SCV005331865 uncertain significance not provided 2023-08-18 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Genesis Genome Database RCV000857182 SCV000999764 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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