ClinVar Miner

Submissions for variant NM_198271.5(LMOD3):c.704C>G (p.Ser235Ter)

dbSNP: rs2092396963
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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 RCV001993220 SCV002236455 pathogenic Nemaline myopathy 10 2022-09-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1451345). This variant has not been reported in the literature in individuals affected with LMOD3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser235*) in the LMOD3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LMOD3 are known to be pathogenic (PMID: 25250574).

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