ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1921C>T (p.His641Tyr)

gnomAD frequency: 0.00004  dbSNP: rs191270471
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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 RCV000818890 SCV000959527 likely benign Charcot-Marie-Tooth disease type 2 2024-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028994 SCV002756177 uncertain significance not specified 2022-05-03 criteria provided, single submitter clinical testing The p.H641Y variant (also known as c.1921C>T), located in coding exon 16 of the GARS gene, results from a C to T substitution at nucleotide position 1921. The histidine at codon 641 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the supporting evidence, this variant is unlikely to be causative of GARS-associated axonal neuropathy (AD); however, its contribution to the development of cytoplasmic and mitochondrial glycine-tRNA ligase deficiency (AR) is uncertain.
GeneDx RCV004702453 SCV005201344 uncertain significance not provided 2023-09-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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