ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.794G>C (p.Arg265Pro)

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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 RCV004962240 SCV005476764 uncertain significance Inborn genetic diseases 2024-07-31 criteria provided, single submitter clinical testing The c.794G>C (p.R265P) alteration is located in exon 8 (coding exon 7) of the PLEKHG5 gene. This alteration results from a G to C substitution at nucleotide position 794, causing the arginine (R) at amino acid position 265 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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