ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.1978_1979dup (p.Pro661fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044043 SCV001207817 likely pathogenic Charcot-Marie-Tooth disease type 2P 2019-04-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the LRSAM1 gene (p.Pro661Glyfs*26). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 63 amino acids of the LRSAM1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LRSAM1-related conditions. This variant disrupts the C-terminus of the LRSAM1 protein. Other variant(s) that disrupt this region (p.Leu668Profs*14, p.Glu674Valfs*11, p.Glu682Glyfs*5) have been observed in individuals with autosomal dominant LRSAM1-related conditions (PMID: 29341362, Invitae). This suggests that this may be a clinically significant region of the protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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