ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.6405G>T (p.Gln2135His)

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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 RCV004648166 SCV005149908 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.6066G>T (p.Q2022H) alteration is located in exon 39 (coding exon 39) of the PIEZO2 gene. This alteration results from a G to T substitution at nucleotide position 6066, causing the glutamine (Q) at amino acid position 2022 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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