ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)

gnomAD frequency: 0.00141  dbSNP: rs144590904
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000338031 SCV000338245 uncertain significance not provided 2016-01-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000625396 SCV000446731 uncertain significance Abetalipoproteinaemia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625396 SCV000745231 likely benign Abetalipoproteinaemia 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000338031 SCV001029015 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000625396 SCV001653459 likely benign Abetalipoproteinaemia 2021-05-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000338031 SCV001714120 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000338031 SCV001745714 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000338031 SCV002062546 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000625396 SCV001461959 benign Abetalipoproteinaemia 2020-01-07 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700028 SCV001924374 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004752823 SCV005344492 likely benign MTTP-related disorder 2024-04-26 no assertion criteria provided 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).

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