ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.759G>A (p.Lys253=)

dbSNP: rs1725509234
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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 RCV001062180 SCV001226962 uncertain significance not provided 2021-07-14 criteria provided, single submitter clinical testing This sequence change affects codon 253 of the MTTP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MTTP protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MTTP-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. RCV001832554 SCV002082422 uncertain significance Abetalipoproteinaemia 2021-04-19 no assertion criteria provided clinical testing

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