ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.6457G>A (p.Asp2153Asn)

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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 RCV004959712 SCV005469244 uncertain significance Inborn genetic diseases 2024-08-01 criteria provided, single submitter clinical testing The c.6118G>A (p.D2040N) alteration is located in exon 40 (coding exon 40) of the PIEZO2 gene. This alteration results from a G to A substitution at nucleotide position 6118, causing the aspartic acid (D) at amino acid position 2040 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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