ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.4501C>G (p.Gln1501Glu)

gnomAD frequency: 0.00001  dbSNP: rs759076587
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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 RCV002891902 SCV003644970 uncertain significance Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.4426C>G (p.Q1476E) alteration is located in exon 29 (coding exon 29) of the PIEZO2 gene. This alteration results from a C to G substitution at nucleotide position 4426, causing the glutamine (Q) at amino acid position 1476 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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