ClinVar Miner

Submissions for variant NM_198271.5(LMOD3):c.882dup (p.Asp295fs)

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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 RCV003100635 SCV003483982 pathogenic Nemaline myopathy 10 2024-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp295Argfs*2) 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 nemaline myopathy (PMID: 30642739). ClinVar contains an entry for this variant (Variation ID: 2169511). For these reasons, this variant has been classified as Pathogenic.

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