ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2043_2044dup (p.Glu682fs)

dbSNP: rs1554762671
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555275 SCV000652030 likely pathogenic Charcot-Marie-Tooth disease axonal type 2P 2021-11-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu682Glyfs*5) in the LRSAM1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the LRSAM1 protein. This variant has not been reported in the literature in individuals affected with LRSAM1-related conditions. 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. This variant disrupts the region of the LRSAM1 protein between p.Leu668 and p.Leu708. Other variants in this region have been observed in individuals with autosomal dominant LRSAM1-related conditions (PMID: 22012984, 29341362; Invitae), which suggests that this may be a clinically significant region of the protein. ClinVar contains an entry for this variant (Variation ID: 472798).

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