ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.190_192dup (p.Leu64dup)

dbSNP: rs1562769487
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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 RCV000701821 SCV000830640 uncertain significance Charcot-Marie-Tooth disease type 2 2018-05-11 criteria provided, single submitter clinical testing This variant, c.190_192dupCTG, results in the insertion of 1 amino acid to the GARS protein (p.Leu64dup), but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with GARS-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. 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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