ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.6632G>A (p.Arg2211His)

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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 RCV004959725 SCV005469259 uncertain significance Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing The c.6293G>A (p.R2098H) alteration is located in exon 40 (coding exon 40) of the PIEZO2 gene. This alteration results from a G to A substitution at nucleotide position 6293, causing the arginine (R) at amino acid position 2098 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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