ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.6112G>A (p.Val2038Met)

gnomAD frequency: 0.00001  dbSNP: rs1428687877
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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 RCV002936114 SCV003667330 uncertain significance Inborn genetic diseases 2022-12-23 criteria provided, single submitter clinical testing The c.5773G>A (p.V1925M) alteration is located in exon 38 (coding exon 38) of the PIEZO2 gene. This alteration results from a G to A substitution at nucleotide position 5773, causing the valine (V) at amino acid position 1925 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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