ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.147G>A (p.Thr49=) (rs145659732)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001039401 SCV000394838 likely benign Charcot-Marie-Tooth disease, type 1C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001039401 SCV001202931 uncertain significance Charcot-Marie-Tooth disease, type 1C 2019-06-20 criteria provided, single submitter clinical testing This sequence change affects codon 49 of the LITAF mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LITAF protein. This variant is present in population databases (rs145659732, ExAC 0.01%). This variant has not been reported in the literature in individuals with LITAF-related conditions. ClinVar contains an entry for this variant (Variation ID: 317786). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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