ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.47TGC[6] (p.Leu20dup)

dbSNP: rs150213018
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555607 SCV000657700 uncertain significance Charcot-Marie-Tooth disease type 2 2024-11-19 criteria provided, single submitter clinical testing This variant, c.59_61dup, results in the insertion of 1 amino acid(s) of the GARS protein (p.Leu20dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760759910, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GARS-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.
Ambry Genetics RCV004024375 SCV004873228 likely benign not specified 2023-10-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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