ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.1392del (p.Glu465fs)

gnomAD frequency: 0.00001  dbSNP: rs1725827570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227851 SCV001400228 pathogenic not provided 2023-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 955246). This premature translational stop signal has been observed in individual(s) with abetalipoproteinemia (PMID: 24842304). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu465Argfs*13) 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001260389 SCV001437351 pathogenic Abetalipoproteinaemia 2020-09-21 criteria provided, single submitter clinical testing Variant summary: MTTP c.1392delA (p.Glu465ArgfsX13) 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 251044 control chromosomes. c.1392delA has been reported in the literature in individuals affected with Abetalipoproteinaemia (Bassen-Kornzweig Syndrome, Di-Filippo_2014). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001260389 SCV005659845 likely pathogenic Abetalipoproteinaemia 2024-04-08 criteria provided, single submitter clinical testing

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