ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1948A>G (p.Thr650Ala)

gnomAD frequency: 0.00006  dbSNP: rs371884344
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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 RCV001220509 SCV001392503 uncertain significance Vici syndrome 2022-06-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 650 of the EPG5 protein (p.Thr650Ala). This variant is present in population databases (rs371884344, 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: 949117). 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.
Ambry Genetics RCV002562509 SCV003549250 uncertain significance Inborn genetic diseases 2022-12-06 criteria provided, single submitter clinical testing The c.1948A>G (p.T650A) alteration is located in exon 10 (coding exon 10) of the EPG5 gene. This alteration results from a A to G substitution at nucleotide position 1948, causing the threonine (T) at amino acid position 650 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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