ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.5012G>A (p.Arg1671Gln)

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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 RCV005389229 SCV006043292 uncertain significance Inborn genetic diseases 2025-01-02 criteria provided, single submitter clinical testing The c.4838G>A (p.R1613Q) alteration is located in exon 33 (coding exon 33) of the PIEZO2 gene. This alteration results from a G to A substitution at nucleotide position 4838, causing the arginine (R) at amino acid position 1613 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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