ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)

gnomAD frequency: 0.03958  dbSNP: rs17599091
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000625114 SCV000446711 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625114 SCV000743811 benign Abetalipoproteinaemia 2015-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520399 SCV001729490 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001520399 SCV001948083 benign not provided 2018-10-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000117639 SCV002051226 likely benign not specified 2021-12-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520399 SCV005260238 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117639 SCV000151871 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Clinical Genetics, Academic Medical Center RCV000117639 SCV001925395 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000625114 SCV002082421 benign Abetalipoproteinaemia 2019-11-25 no assertion criteria provided clinical testing

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