ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=)

gnomAD frequency: 0.00078  dbSNP: rs145386883
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000971339 SCV001118980 likely benign Mucolipidosis type IV 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000971339 SCV001293918 uncertain significance Mucolipidosis type IV 2017-05-22 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002400125 SCV002705639 likely benign Inborn genetic diseases 2022-03-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003936119 SCV004757523 likely benign MCOLN1-related disorder 2019-03-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000971339 SCV001461401 likely benign Mucolipidosis type IV 2020-06-01 no assertion criteria provided clinical testing

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