ClinVar Miner

Submissions for variant NM_001367823.1(ARHGEF18):c.3217G>A (p.Glu1073Lys)

gnomAD frequency: 0.00265  dbSNP: rs555008215
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044823 SCV001208643 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031373 SCV004911000 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.2653G>A (p.E885K) alteration is located in exon 16 (coding exon 16) of the ARHGEF18 gene. This alteration results from a G to A substitution at nucleotide position 2653, causing the glutamic acid (E) at amino acid position 885 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001044823 SCV005313060 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003928676 SCV004738927 likely benign ARHGEF18-related disorder 2019-04-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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