ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.130C>G (p.Leu44Val)

gnomAD frequency: 0.00009  dbSNP: rs779068565
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248618 SCV001422117 uncertain significance not provided 2022-04-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 44 of the MTTP protein (p.Leu44Val). This variant is present in population databases (rs779068565, gnomAD 0.007%). 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: 972557). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001248618 SCV001714118 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649544 SCV005146739 uncertain significance Inborn genetic diseases 2024-05-23 criteria provided, single submitter clinical testing The c.130C>G (p.L44V) alteration is located in exon 3 (coding exon 2) of the MTTP gene. This alteration results from a C to G substitution at nucleotide position 130, causing the leucine (L) at amino acid position 44 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics, Academic Medical Center RCV001248618 SCV001925353 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001248618 SCV001970936 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001830046 SCV002082403 uncertain significance Abetalipoproteinaemia 2020-02-26 no assertion criteria provided clinical testing

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