ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.7726G>A (p.Asp2576Asn)

gnomAD frequency: 0.00006  dbSNP: rs200967600
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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 RCV001970790 SCV002266165 uncertain significance Vici syndrome 2022-02-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2576 of the EPG5 protein (p.Asp2576Asn). This variant is present in population databases (rs200967600, gnomAD 0.02%). 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: "Tolerated"; 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 RCV002573383 SCV003533370 uncertain significance Inborn genetic diseases 2022-09-28 criteria provided, single submitter clinical testing The c.7726G>A (p.D2576N) alteration is located in exon 44 (coding exon 44) of the EPG5 gene. This alteration results from a G to A substitution at nucleotide position 7726, causing the aspartic acid (D) at amino acid position 2576 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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