ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.5929G>A (p.Asp1977Asn)

gnomAD frequency: 0.00006  dbSNP: rs1021263575
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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 RCV003248791 SCV003953057 uncertain significance Inborn genetic diseases 2023-06-07 criteria provided, single submitter clinical testing The c.5590G>A (p.D1864N) alteration is located in exon 37 (coding exon 37) of the PIEZO2 gene. This alteration results from a G to A substitution at nucleotide position 5590, causing the aspartic acid (D) at amino acid position 1864 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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