ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.499C>T (p.Gln167Ter)

dbSNP: rs1056159821
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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 RCV001388005 SCV001588787 pathogenic Mucolipidosis type IV 2022-07-14 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: 1074644). This variant has not been reported in the literature in individuals affected with MCOLN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln167*) 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).

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