ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4222A>G (p.Ile1408Val)

gnomAD frequency: 0.00019  dbSNP: rs369984684
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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 RCV001876408 SCV002119632 uncertain significance Vici syndrome 2022-10-04 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 1408 of the EPG5 protein (p.Ile1408Val). This variant is present in population databases (rs369984684, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1355104). 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 EPG5 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 RCV002545811 SCV003682244 uncertain significance Inborn genetic diseases 2022-01-03 criteria provided, single submitter clinical testing The c.4222A>G (p.I1408V) alteration is located in exon 24 (coding exon 24) of the EPG5 gene. This alteration results from a A to G substitution at nucleotide position 4222, causing the isoleucine (I) at amino acid position 1408 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004762200 SCV005370009 uncertain significance not provided 2023-06-07 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

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