ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.2043_2044dup (p.Glu682fs) (rs1554762671)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555275 SCV000652030 uncertain significance Charcot-Marie-Tooth disease type 2P 2017-03-29 criteria provided, single submitter clinical testing This sequence change inserts 2 nucleotides in exon 24 of the LRSAM1 mRNA (c.2043_2044dupGG), causing a frameshift at codon 682. This creates a premature translational stop signal in the last exon of the LRSAM1 mRNA (p.Glu682Glyfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acids of the LRSAM1 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an LRSAM1-related disease. Experimental studies have not been reported for this truncating variant and it is currently unknown if the last 42 amino acids of the LRSAM1 protein are critical for its function. A similar frameshift downstream of this variant (c.2121_2122dupGC) has been reported in a family affected with Charcot-Marie-Tooth disease (PMID: 22012984, 26900582), but the clinical significance of this observation is uncertain. In summary, this is a novel truncation with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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