ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.6793C>A (p.His2265Asn)

dbSNP: rs751951617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001397963 SCV001599725 likely benign not provided 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004952863 SCV005469239 uncertain significance Inborn genetic diseases 2024-10-16 criteria provided, single submitter clinical testing The c.6454C>A (p.H2152N) alteration is located in exon 41 (coding exon 41) of the PIEZO2 gene. This alteration results from a C to A substitution at nucleotide position 6454, causing the histidine (H) at amino acid position 2152 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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