ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1627C>T (p.Gln543Ter)

dbSNP: rs1368027694
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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 RCV001939516 SCV002231940 pathogenic Mucolipidosis type IV 2022-06-05 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: 1454517). This sequence change creates a premature translational stop signal (p.Gln543*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MCOLN1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV005016942 SCV005648830 likely pathogenic Mucolipidosis type IV; Lisch epithelial corneal dystrophy 2024-03-07 criteria provided, single submitter clinical testing

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