ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.169C>T (p.Arg57Ter)

dbSNP: rs765577483
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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 RCV001385399 SCV001585235 pathogenic Mucolipidosis type IV 2022-10-28 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: 1072635). This variant has not been reported in the literature in individuals affected with MCOLN1-related conditions. This variant is present in population databases (rs765577483, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg57*) 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).
Fulgent Genetics, Fulgent Genetics RCV005023146 SCV005648810 likely pathogenic Mucolipidosis type IV; Lisch epithelial corneal dystrophy 2024-06-18 criteria provided, single submitter clinical testing

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