ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.2212del (p.Ser738fs)

dbSNP: rs755681036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588539 SCV000696300 pathogenic Abetalipoproteinaemia 2023-01-16 criteria provided, single submitter clinical testing Variant summary: MTTP c.2212delT (p.Ser738LeufsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 249852 control chromosomes (gnomAD). c.2212delT has been reported in the literature in multiple individuals affected with Abetalipoproteinaemia (Bassen-Kornzweig Syndrome)(examples: Benayoun_2007 and Narcisi_1995). These data indicate that the variant is very likely to be associated with disease. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001853979 SCV002239451 pathogenic not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser738Leufs*10) in the MTTP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTTP are known to be pathogenic (PMID: 8533758, 9671739). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with abetalipoproteinemia (PMID: 8533758). ClinVar contains an entry for this variant (Variation ID: 495776). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001853979 SCV005413655 pathogenic not provided 2023-12-12 criteria provided, single submitter clinical testing PM2_moderate, PM3_supporting, PVS1

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