ClinVar Miner

Submissions for variant NM_014448.4(ARHGEF16):c.1841C>T (p.Ala614Val)

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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 RCV005260716 SCV005927601 uncertain significance not specified 2024-12-25 criteria provided, single submitter clinical testing The c.1841C>T (p.A614V) alteration is located in exon 13 (coding exon 12) of the ARHGEF16 gene. This alteration results from a C to T substitution at nucleotide position 1841, causing the alanine (A) at amino acid position 614 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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