ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2776G>A (p.Ala926Thr)

gnomAD frequency: 0.00001  dbSNP: rs371695724
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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 RCV001362748 SCV001558781 uncertain significance Vici syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 926 of the EPG5 protein (p.Ala926Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs371695724, 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 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 RCV002548544 SCV003555011 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.2776G>A (p.A926T) alteration is located in exon 15 (coding exon 15) of the EPG5 gene. This alteration results from a G to A substitution at nucleotide position 2776, causing the alanine (A) at amino acid position 926 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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