ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2046_2046+12del

dbSNP: rs2132128595
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360725 SCV001556657 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2020-09-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in the last intron (intron 24) of the LRSAM1 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with LRSAM1-related conditions. 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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