ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.832C>T (p.His278Tyr)

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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 RCV004962246 SCV005472216 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The c.832C>T (p.H278Y) alteration is located in exon 9 (coding exon 8) of the PLEKHG5 gene. This alteration results from a C to T substitution at nucleotide position 832, causing the histidine (H) at amino acid position 278 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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