ClinVar Miner

Submissions for variant NM_004184.4(WARS1):c.700A>G (p.Ile234Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003356188 SCV004068768 uncertain significance Inborn genetic diseases 2023-09-13 criteria provided, single submitter clinical testing The c.700A>G (p.I234V) alteration is located in exon 6 (coding exon 5) of the WARS gene. This alteration results from a A to G substitution at nucleotide position 700, causing the isoleucine (I) at amino acid position 234 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004596580 SCV005088910 likely pathogenic Neuronopathy, distal hereditary motor, type 9 2021-06-17 criteria provided, single submitter clinical testing This variant lies in the catalytic domain of the protein [PMID: 28369220] and predicted to be damaging by in-silico missense prediction tools (SIFT and Polyphen2). It has not been previously reported in the literature. However, in ClinVar database, other missense variants lying in the catalytic domain of the protein such as; p.His257Arg and p.Asp314Gly have been previously reported as ‘pathogenic’ in the context of neuronopathy, distal hereditary motor, type 9.

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