ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2005G>T (p.Glu669Ter)

dbSNP: rs1588143112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205278 SCV001376523 likely pathogenic Charcot-Marie-Tooth disease axonal type 2P 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu669*) in the LRSAM1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 55 amino acid(s) of the LRSAM1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 695013). This protein change is located in a region of the LRSAM1 protein where a significant number of LRSAM1 nonsense and frameshift mutations have been reported in autosomal dominant Charcot-Marie-Tooth disease (PMID: 33414056, 31211173, 29341362). 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.
Genesis Genome Database RCV000857216 SCV000999800 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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