ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.4250A>G (p.Lys1417Arg)

gnomAD frequency: 0.00031  dbSNP: rs749257673
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001797230 SCV002038638 uncertain significance not provided 2025-03-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001797230 SCV003265994 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002541304 SCV003689841 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.4175A>G (p.K1392R) alteration is located in exon 27 (coding exon 27) of the PIEZO2 gene. This alteration results from a A to G substitution at nucleotide position 4175, causing the lysine (K) at amino acid position 1392 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001797230 SCV005193237 uncertain significance not provided criteria provided, single submitter not provided

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