ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs)

dbSNP: rs2110230146
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001905614 SCV002154049 pathogenic not provided 2021-06-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile547Serfs*3) 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 has not been reported in the literature in individuals affected with MTTP-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002503485 SCV002808529 likely pathogenic Abetalipoproteinaemia; Metabolic syndrome X 2022-02-01 criteria provided, single submitter clinical testing

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