ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.2629A>G (p.Met877Val)

dbSNP: rs1726272076
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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 RCV001246025 SCV001419354 uncertain significance not provided 2019-10-02 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 877 of the MTTP protein (p.Met877Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MTTP-related conditions. This variant has been reported not to substantially affect MTTP protein function (PMID: 8533758). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001835256 SCV002082464 uncertain significance Abetalipoproteinaemia 2020-07-08 no assertion criteria provided clinical testing

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