ClinVar Miner

Submissions for variant NM_014448.4(ARHGEF16):c.1553G>A (p.Arg518Gln)

gnomAD frequency: 0.00001  dbSNP: rs747219652
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004083403 SCV003542132 uncertain significance not specified 2022-10-04 criteria provided, single submitter clinical testing The c.1553G>A (p.R518Q) alteration is located in exon 11 (coding exon 10) of the ARHGEF16 gene. This alteration results from a G to A substitution at nucleotide position 1553, causing the arginine (R) at amino acid position 518 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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