ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.3506T>C (p.Met1169Thr)

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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 RCV004959733 SCV005469268 uncertain significance Inborn genetic diseases 2024-10-07 criteria provided, single submitter clinical testing The c.3431T>C (p.M1144T) alteration is located in exon 23 (coding exon 23) of the PIEZO2 gene. This alteration results from a T to C substitution at nucleotide position 3431, causing the methionine (M) at amino acid position 1144 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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