ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1005G>A (p.Trp335Ter)

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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 RCV002791902 SCV003201225 pathogenic Mucolipidosis type IV 2022-05-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp335*) in the MCOLN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCOLN1 are known to be pathogenic (PMID: 11030752, 11317355). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MCOLN1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV005027972 SCV005648824 likely pathogenic Mucolipidosis type IV; Lisch epithelial corneal dystrophy 2024-05-04 criteria provided, single submitter clinical testing

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