ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.19G>T (p.Val7Leu)

gnomAD frequency: 0.00009  dbSNP: rs201132307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814077 SCV000954474 likely benign Charcot-Marie-Tooth disease type 2 2024-12-02 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174145 SCV001337266 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736911 SCV004565206 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing The GARS1 c.19G>T; p.Val7Leu variant (rs201132307) is reported in the literature in two individuals with symptoms of Charcot-Marie-Tooth disease (Volodarsky 2021). This variant is reported in ClinVar (Variation ID: 657471) and is found in the non-Finnish European population with an allele frequency of 0.0247% (28/113,414 alleles) in the Genome Aggregation Database. Computational analyses predict that this variant is neutral (REVEL: 0.108). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Volodarsky M et al. Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients. J Med Genet. 2021 Apr;58(4):284-288. PMID: 32376792.

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