ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.54dup (p.Asn19fs)

dbSNP: rs1057516602
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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 RCV000410945 SCV004445037 pathogenic Mucolipidosis type IV 2023-06-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn19Glnfs*69) 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. ClinVar contains an entry for this variant (Variation ID: 370580). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000410945 SCV000485933 likely pathogenic Mucolipidosis type IV 2016-03-03 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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