ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.787G>A (p.Val263Ile)

gnomAD frequency: 0.00004  dbSNP: rs77518956
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000585481 SCV000293021 uncertain significance not provided 2023-03-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26503042, 26138142, 25168514, 32376792, 34813128)
CeGaT Center for Human Genetics Tuebingen RCV000585481 SCV000693234 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing GARS1: BP4
Invitae RCV001080429 SCV001010574 likely benign Charcot-Marie-Tooth disease type 2 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165659 SCV003869816 uncertain significance Inborn genetic diseases 2023-01-27 criteria provided, single submitter clinical testing Unlikely to be causative of GARS1-related axonal neuropathy (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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