ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu)

gnomAD frequency: 0.00003  dbSNP: rs765341695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054110 SCV001218406 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 819 of the MTTP protein (p.Phe819Leu). This variant is present in population databases (rs765341695, gnomAD 0.04%). 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: 850026). 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 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 RCV004031701 SCV005011579 uncertain significance Inborn genetic diseases 2023-12-11 criteria provided, single submitter clinical testing The c.2457T>G (p.F819L) alteration is located in exon 18 (coding exon 17) of the MTTP gene. This alteration results from a T to G substitution at nucleotide position 2457, causing the phenylalanine (F) at amino acid position 819 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001832491 SCV002082462 uncertain significance Abetalipoproteinaemia 2020-09-24 no assertion criteria provided clinical testing

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