ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.2204A>G (p.Tyr735Cys)

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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 RCV004959711 SCV005469243 uncertain significance Inborn genetic diseases 2024-08-20 criteria provided, single submitter clinical testing The c.2204A>G (p.Y735C) alteration is located in exon 16 (coding exon 16) of the PIEZO2 gene. This alteration results from a A to G substitution at nucleotide position 2204, causing the tyrosine (Y) at amino acid position 735 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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