ClinVar Miner

Submissions for variant NM_014448.4(ARHGEF16):c.1102G>C (p.Glu368Gln)

dbSNP: rs2521695631
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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 RCV004424956 SCV004908778 uncertain significance not specified 2023-10-10 criteria provided, single submitter clinical testing The c.1102G>C (p.E368Q) alteration is located in exon 7 (coding exon 6) of the ARHGEF16 gene. This alteration results from a G to C substitution at nucleotide position 1102, causing the glutamic acid (E) at amino acid position 368 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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