ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.814G>A (p.Val272Ile)

dbSNP: rs367846863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047367 SCV001211319 uncertain significance Vici syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 272 of the EPG5 protein (p.Val272Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs367846863, ExAC 0.001%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine 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.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252711 SCV001163854 uncertain significance Microcephaly no assertion criteria provided research

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