ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2189T>C (p.Val730Ala)

gnomAD frequency: 0.00028  dbSNP: rs549760994
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703413 SCV000832311 uncertain significance Vici syndrome 2022-10-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 730 of the EPG5 protein (p.Val730Ala). This variant is present in population databases (rs549760994, 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: 579995). 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 RCV002536371 SCV003687194 uncertain significance Inborn genetic diseases 2020-12-19 criteria provided, single submitter clinical testing The c.2189T>C (p.V730A) alteration is located in exon 11 (coding exon 11) of the EPG5 gene. This alteration results from a T to C substitution at nucleotide position 2189, causing the valine (V) at amino acid position 730 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000703413 SCV003833532 uncertain significance Vici syndrome 2021-03-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692181 SCV005193322 uncertain significance not provided criteria provided, single submitter not provided

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