ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu)

gnomAD frequency: 0.00049  dbSNP: rs146045390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204439 SCV001375645 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 625 of the MTTP protein (p.Pro625Leu). This variant is present in population databases (rs146045390, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MTTP-related conditions. ClinVar contains an entry for this variant (Variation ID: 935777). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MTTP 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.
New York Genome Center RCV001833797 SCV004176079 uncertain significance Abetalipoproteinaemia 2023-03-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898195 SCV004715026 likely benign MTTP-related disorder 2022-03-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001833797 SCV002082447 uncertain significance Abetalipoproteinaemia 2020-02-13 no assertion criteria provided clinical testing

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