ClinVar Miner

Submissions for variant NM_001136472.2(LITAF):c.404C>T (p.Pro135Leu)

dbSNP: rs797044848
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823010 SCV000963845 uncertain significance Charcot-Marie-Tooth disease type 1C 2018-12-25 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 135 of the LITAF protein (p.Pro135Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease (PMID: 28211240). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Pro135 amino acid residue in LITAF. Other variant(s) that disrupt this residue have been observed in individuals with LITAF-related conditions (PMID: 16787513, 24880540), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. 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.

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