ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.7996C>T (p.Leu2666Phe)

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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 RCV004657142 SCV005149919 uncertain significance Inborn genetic diseases 2024-04-01 criteria provided, single submitter clinical testing The c.7657C>T (p.L2553F) alteration is located in exon 49 (coding exon 49) of the PIEZO2 gene. This alteration results from a C to T substitution at nucleotide position 7657, causing the leucine (L) at amino acid position 2553 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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