ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.7322A>G (p.Asn2441Ser)

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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 RCV004959708 SCV005469240 uncertain significance Inborn genetic diseases 2024-08-05 criteria provided, single submitter clinical testing The c.6983A>G (p.N2328S) alteration is located in exon 44 (coding exon 44) of the PIEZO2 gene. This alteration results from a A to G substitution at nucleotide position 6983, causing the asparagine (N) at amino acid position 2328 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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