ClinVar Miner

Submissions for variant NM_014448.4(ARHGEF16):c.1676T>C (p.Val559Ala)

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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 RCV004849115 SCV005482286 uncertain significance not specified 2024-12-07 criteria provided, single submitter clinical testing The c.1676T>C (p.V559A) alteration is located in exon 12 (coding exon 11) of the ARHGEF16 gene. This alteration results from a T to C substitution at nucleotide position 1676, causing the valine (V) at amino acid position 559 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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