ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3991A>G (p.Ile1331Val)

gnomAD frequency: 0.00001  dbSNP: rs775284965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000426995 SCV000511360 uncertain significance not provided 2016-09-20 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001851027 SCV002310225 uncertain significance Vici syndrome 2023-11-20 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 1331 of the EPG5 protein (p.Ile1331Val). This variant is present in population databases (rs775284965, gnomAD 0.007%). 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: 377147). 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 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 RCV002524722 SCV003564090 uncertain significance Inborn genetic diseases 2021-05-10 criteria provided, single submitter clinical testing The c.3991A>G (p.I1331V) alteration is located in exon 23 (coding exon 23) of the EPG5 gene. This alteration results from a A to G substitution at nucleotide position 3991, causing the isoleucine (I) at amino acid position 1331 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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