ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.305G>A (p.Arg102Gln)

gnomAD frequency: 0.00042  dbSNP: rs139377969
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000961207 SCV001108244 likely benign Mucolipidosis type IV 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000961207 SCV001290712 likely benign Mucolipidosis type IV 2017-08-01 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab RCV000961207 SCV001805942 likely benign Mucolipidosis type IV 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV003148900 SCV003837305 uncertain significance not provided 2024-09-07 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV003148900 SCV005210617 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000961207 SCV001460352 likely benign Mucolipidosis type IV 2020-05-04 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003943107 SCV004761076 likely benign MCOLN1-related disorder 2022-03-09 no assertion criteria provided 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).

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