ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3014C>T (p.Thr1005Met)

gnomAD frequency: 0.00002  dbSNP: rs890699630
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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 RCV000805037 SCV000944979 uncertain significance Vici syndrome 2022-02-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1005 of the EPG5 protein (p.Thr1005Met). This variant is present in population databases (no rsID available, 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: 649976). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine 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.
New York Genome Center RCV000805037 SCV001480413 uncertain significance Vici syndrome 2020-05-12 criteria provided, single submitter clinical testing

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