ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.6202T>A (p.Leu2068Met)

dbSNP: rs112982077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503315 SCV000596421 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527281 SCV003723646 uncertain significance Inborn genetic diseases 2022-09-28 criteria provided, single submitter clinical testing The c.5863T>A (p.L1955M) alteration is located in exon 38 (coding exon 38) of the PIEZO2 gene. This alteration results from a T to A substitution at nucleotide position 5863, causing the leucine (L) at amino acid position 1955 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003565427 SCV004318119 uncertain significance not provided 2025-01-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1955 of the PIEZO2 protein (p.Leu1955Met). This variant is present in population databases (rs112982077, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with PIEZO2-related conditions. ClinVar contains an entry for this variant (Variation ID: 436312). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PIEZO2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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