ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.47C>T (p.Pro16Leu)

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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 RCV004657147 SCV005149927 uncertain significance Inborn genetic diseases 2024-06-04 criteria provided, single submitter clinical testing The c.47C>T (p.P16L) alteration is located in exon 1 (coding exon 1) of the PIEZO2 gene. This alteration results from a C to T substitution at nucleotide position 47, causing the proline (P) at amino acid position 16 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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