ClinVar Miner

Submissions for variant NM_014448.4(ARHGEF16):c.658C>G (p.Gln220Glu)

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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 RCV004849154 SCV005482325 uncertain significance not specified 2024-12-09 criteria provided, single submitter clinical testing The c.658C>G (p.Q220E) alteration is located in exon 4 (coding exon 3) of the ARHGEF16 gene. This alteration results from a C to G substitution at nucleotide position 658, causing the glutamine (Q) at amino acid position 220 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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