ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu)

gnomAD frequency: 0.00009  dbSNP: rs782248986
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430990 SCV000531220 uncertain significance not provided 2016-08-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ARHGEF9 gene. The M347L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M347L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species, and Leucine is observed at this position in other species. However, M374L was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000685616 SCV000813101 likely benign Developmental and epileptic encephalopathy, 8 2024-01-25 criteria provided, single submitter clinical testing

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