ClinVar Miner

Submissions for variant NM_130838.3(UBE3A):c.2480C>T (p.Pro827Leu) (rs587781239)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000144315 SCV000172066 pathogenic Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing
Invitae RCV000144315 SCV000964232 likely pathogenic Angelman syndrome 2019-01-05 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 827 of the UBE3A protein (p.Pro827Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with clinical features of Angelman syndrome (PMID: 29188609).  This variant has been also been observed in an individual affected with Angelman syndome (PMID: 25212744). This variant is also known as c.2540C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 155992). 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: "C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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