ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser) (rs375202318)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230506 SCV000288772 uncertain significance Charcot-Marie-Tooth disease, type 1C 2019-01-09 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 39 of the LITAF protein (p.Pro39Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs375202318, ExAC <0.01%) but has not been reported in the literature in affected individuals. ClinVar contains an entry for this variant (Variation ID: 240077) Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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