ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser)

gnomAD frequency: 0.08314  dbSNP: rs3792683
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000376488 SCV000446706 benign Abetalipoproteinaemia 2018-01-12 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192653 SCV001360908 likely benign not specified 2019-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522722 SCV001732315 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001522722 SCV001949151 benign not provided 2018-08-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28008009, 33111339)
Breakthrough Genomics, Breakthrough Genomics RCV001522722 SCV005260235 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000376488 SCV002082416 benign Abetalipoproteinaemia 2019-11-21 no assertion criteria provided clinical testing

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