ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3778G>A (p.Val1260Met)

dbSNP: rs2049965622
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004973619 SCV005577491 uncertain significance Inborn genetic diseases 2024-07-05 criteria provided, single submitter clinical testing The c.3778G>A (p.V1260M) alteration is located in exon 21 (coding exon 21) of the EPG5 gene. This alteration results from a G to A substitution at nucleotide position 3778, causing the valine (V) at amino acid position 1260 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002756758 SCV003022935 uncertain significance Vici syndrome 2022-05-31 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1260 of the EPG5 protein (p.Val1260Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EPG5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GenomeConnect - Invitae Patient Insights Network RCV002756758 SCV006556800 not provided Vici syndrome no classification provided phenotyping only Variant classified as Uncertain significance and reported on 06-16-2022 by Invitae. GenomeConnect-InvitaePIN assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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