ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2699G>A (p.Arg900His)

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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 RCV004962243 SCV005476768 uncertain significance Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing The c.2699G>A (p.R900H) alteration is located in exon 20 (coding exon 19) of the PLEKHG5 gene. This alteration results from a G to A substitution at nucleotide position 2699, causing the arginine (R) at amino acid position 900 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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