ClinVar Miner

Submissions for variant NM_198271.5(LMOD3):c.154del (p.Gly51_Met52insTer)

dbSNP: rs1369933918
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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 RCV002004895 SCV002230359 pathogenic Nemaline myopathy 10 2024-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met52*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive nemaline myopathy (PMID: 25250574). ClinVar contains an entry for this variant (Variation ID: 1450617). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002004895 SCV003807592 pathogenic Nemaline myopathy 10 2023-02-10 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated, PM3 moderated

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