ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu)

dbSNP: rs767833468
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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 RCV002533982 SCV003525854 likely pathogenic not provided 2022-08-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 746 of the MTTP protein (p.Gly746Glu). This variant is present in population databases (rs767833468, gnomAD 0.0009%). This missense change has been observed in individual(s) with abetalipoproteinemia (PMID: 10679949, 20592474). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 627620). 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"). Experimental studies have shown that this missense change affects MTTP function (PMID: 23475612). 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.
GeneReviews RCV000770995 SCV000902490 not provided Abetalipoproteinaemia no assertion provided literature only

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