ClinVar Miner

Submissions for variant NM_001136472.2(LITAF):c.251C>T (p.Pro84Leu)

gnomAD frequency: 0.00001  dbSNP: rs761746674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236418 SCV000292925 uncertain significance not provided 2015-06-10 criteria provided, single submitter clinical testing The P84L variant has not been published as pathogenic, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P84L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the P84L variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001857800 SCV002149139 uncertain significance Charcot-Marie-Tooth disease type 1C 2023-06-16 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 245794). This variant has not been reported in the literature in individuals affected with LITAF-related conditions. This variant is present in population databases (rs761746674, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 84 of the LITAF protein (p.Pro84Leu).

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