ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.2973G>T (p.Leu991Phe)

dbSNP: rs1162546084
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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 RCV003300154 SCV003992672 uncertain significance Inborn genetic diseases 2023-06-07 criteria provided, single submitter clinical testing The c.2898G>T (p.L966F) alteration is located in exon 20 (coding exon 20) of the PIEZO2 gene. This alteration results from a G to T substitution at nucleotide position 2898, causing the leucine (L) at amino acid position 966 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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