ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.4114G>A (p.Asp1372Asn)

gnomAD frequency: 0.00003  dbSNP: rs534984825
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001969287 SCV002252859 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1347 of the PIEZO2 protein (p.Asp1347Asn). This variant is present in population databases (rs534984825, gnomAD 0.008%). 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: 1472463). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
Ambry Genetics RCV004042205 SCV005006145 uncertain significance Inborn genetic diseases 2023-12-07 criteria provided, single submitter clinical testing The c.4039G>A (p.D1347N) alteration is located in exon 26 (coding exon 26) of the PIEZO2 gene. This alteration results from a G to A substitution at nucleotide position 4039, causing the aspartic acid (D) at amino acid position 1347 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001969287 SCV005874917 uncertain significance not provided 2024-09-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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