ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6769A>G (p.Met2257Val)

gnomAD frequency: 0.00003  dbSNP: rs201722679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809919 SCV000950102 uncertain significance Vici syndrome 2025-01-07 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2257 of the EPG5 protein (p.Met2257Val). This variant is present in population databases (rs201722679, gnomAD 0.006%). 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: 654033). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV004972987 SCV005577482 uncertain significance Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing The c.6769A>G (p.M2257V) alteration is located in exon 40 (coding exon 40) of the EPG5 gene. This alteration results from a A to G substitution at nucleotide position 6769, causing the methionine (M) at amino acid position 2257 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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