ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1009C>T (p.Arg337Ter)

dbSNP: rs767696937
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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 RCV000810292 SCV000950486 uncertain significance Charcot-Marie-Tooth disease type 2 2024-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg337*) in the GARS gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GARS cause disease. This variant is present in population databases (rs767696937, gnomAD 0.006%). 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: 654349). 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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