ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2684C>G (p.Pro895Arg)

dbSNP: rs1334141631
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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 RCV002892468 SCV003648741 uncertain significance Inborn genetic diseases 2022-09-26 criteria provided, single submitter clinical testing The c.2684C>G (p.P895R) alteration is located in exon 20 (coding exon 19) of the PLEKHG5 gene. This alteration results from a C to G substitution at nucleotide position 2684, causing the proline (P) at amino acid position 895 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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