ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.109T>C (p.Tyr37His)

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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 RCV004959704 SCV005469234 uncertain significance Inborn genetic diseases 2024-11-19 criteria provided, single submitter clinical testing The c.109T>C (p.Y37H) alteration is located in exon 2 (coding exon 2) of the PIEZO2 gene. This alteration results from a T to C substitution at nucleotide position 109, causing the tyrosine (Y) at amino acid position 37 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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