ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) (rs1554763035)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649922 SCV000771758 likely pathogenic Charcot-Marie-Tooth disease type 2P 2019-04-16 criteria provided, single submitter clinical testing This sequence change results in a frameshift variant in the LRSAM1 gene (p.Gln701Argfs*34). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 codons of the LRSAM1 gene and extend the LRSAM1 protein by 10 amino acids. 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 disease. A different frameshift variant in the last exon (p.Leu708Argtfs*28) has been determined to be pathogenic (PMID: 22012984, 28335037, 26900582) and another similar frameshift variant (p..Ile713Serfs*20) has been observed in individuals affected with Charcot-Marie-Tooth disease type 2 (PMID: 26752306). This suggests that disruption of this region is critical for LRSAM1 protein function and that other extensions in the last exon may also be pathogenic. 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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