ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.152C>T (p.Thr51Met)

gnomAD frequency: 0.00044  dbSNP: rs371432372
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660458 SCV000782551 uncertain significance Arthrogryposis, distal, with impaired proprioception and touch 2016-12-15 criteria provided, single submitter clinical testing
GeneDx RCV001551377 SCV001771870 uncertain significance not provided 2023-06-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001551377 SCV003266095 likely benign not provided 2024-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532016 SCV003687855 uncertain significance Inborn genetic diseases 2024-03-30 criteria provided, single submitter clinical testing The c.152C>T (p.T51M) alteration is located in exon 2 (coding exon 2) of the PIEZO2 gene. This alteration results from a C to T substitution at nucleotide position 152, causing the threonine (T) at amino acid position 51 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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