ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.6101G>A (p.Arg2034His)

gnomAD frequency: 0.00008  dbSNP: rs753662767
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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 RCV003185063 SCV003872318 uncertain significance Inborn genetic diseases 2023-03-13 criteria provided, single submitter clinical testing The c.5762G>A (p.R1921H) alteration is located in exon 38 (coding exon 38) of the PIEZO2 gene. This alteration results from a G to A substitution at nucleotide position 5762, causing the arginine (R) at amino acid position 1921 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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