ClinVar Miner

Submissions for variant NC_000019.9:g.(7591813_7592405)_(7592847_7593043)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226835 SCV003923151 likely pathogenic Mucolipidosis type IV 2023-03-21 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 5-6 in the MCOLN1 gene. A presumed nomenclature of c.(571+1_572-1)_(777+1_778-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a frameshift in the MCOLN1 gene, a known mechanism of disease. The variant was absent in 21154 control chromosomes in the gnomAD database, structural variants dataset. To our knowledge, no occurrence of c.(571+1_572-1)_(777+1_778-1)del in individuals affected with Mucolipidosis Type 4 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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