ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.877G>T (p.Val293Phe)

gnomAD frequency: 0.00002  dbSNP: rs146548751
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239614 SCV001412498 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 293 of the MTTP protein (p.Val293Phe). This variant is present in population databases (rs146548751, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MTTP-related conditions. ClinVar contains an entry for this variant (Variation ID: 965221). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MTTP protein function. 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.
Ambry Genetics RCV002563948 SCV003528133 uncertain significance Inborn genetic diseases 2021-07-21 criteria provided, single submitter clinical testing The c.877G>T (p.V293F) alteration is located in exon 8 (coding exon 7) of the MTTP gene. This alteration results from a G to T substitution at nucleotide position 877, causing the valine (V) at amino acid position 293 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001239614 SCV005410572 uncertain significance not provided 2023-08-08 criteria provided, single submitter clinical testing BP4
Natera, Inc. RCV001834097 SCV002082427 uncertain significance Abetalipoproteinaemia 2019-12-31 no assertion criteria provided clinical testing

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