ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala)

gnomAD frequency: 0.00001  dbSNP: rs530891983
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711742 SCV000842134 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334992 SCV001528014 uncertain significance Charcot-Marie-Tooth disease type 2D 2018-07-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002233728 SCV002508427 likely benign Charcot-Marie-Tooth disease type 2 2024-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026810 SCV003743680 uncertain significance not specified 2021-08-23 criteria provided, single submitter clinical testing The c.2159A>C (p.E720A) alteration is located in exon 17 (coding exon 17) of the GARS gene. This alteration results from a A to C substitution at nucleotide position 2159, causing the glutamic acid (E) at amino acid position 720 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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