ClinVar Miner

Submissions for variant NM_004563.4(PCK2):c.802A>G (p.Ile268Val)

gnomAD frequency: 0.00034  dbSNP: rs146890792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479103 SCV000572829 likely benign not provided 2020-09-02 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 RCV000479103 SCV002114364 uncertain significance not provided 2024-09-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 268 of the PCK2 protein (p.Ile268Val). This variant is present in population databases (rs146890792, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with PCK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 423170). 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) indicates that this missense variant is not expected to disrupt PCK2 protein function with a negative predictive value of 80%. 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 RCV004023186 SCV003746758 uncertain significance not specified 2024-11-09 criteria provided, single submitter clinical testing The c.802A>G (p.I268V) alteration is located in exon 5 (coding exon 5) of the PCK2 gene. This alteration results from a A to G substitution at nucleotide position 802, causing the isoleucine (I) at amino acid position 268 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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