ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)

gnomAD frequency: 0.00315  dbSNP: rs73003348
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000327699 SCV000335116 benign not specified 2015-10-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310578 SCV000415610 uncertain significance Mucolipidosis type IV 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000310578 SCV001122631 likely benign Mucolipidosis type IV 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675737 SCV001151605 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000310578 SCV001652759 uncertain significance Mucolipidosis type IV 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000675737 SCV001885354 likely benign not provided 2021-03-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31578829)
Mayo Clinic Laboratories, Mayo Clinic RCV000675737 SCV000801454 uncertain significance not provided 2015-10-20 no assertion criteria provided clinical testing
Natera, Inc. RCV000310578 SCV002091380 likely benign Mucolipidosis type IV 2017-06-13 no assertion criteria provided clinical testing

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