ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs)

dbSNP: rs797044822
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000192307 SCV001390412 pathogenic Mucolipidosis type IV 2021-06-03 criteria provided, single submitter clinical testing 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 been observed in combination with another MCOLN1 variant in an individual affected with mucolipidosis type IV (PMID: 11030752). This variant is known as c.1334_1335insT in the literature. ClinVar contains an entry for this variant (Variation ID: 208028). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr404Leufs*59) in the MCOLN1 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV005025308 SCV005648826 likely pathogenic Mucolipidosis type IV; Lisch epithelial corneal dystrophy 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000192307 SCV002091404 pathogenic Mucolipidosis type IV 2017-03-17 no assertion criteria provided clinical testing

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