ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1706+4C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003050788 SCV003445926 uncertain significance Mucolipidosis type IV 2021-12-02 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the MCOLN1 gene. It does not directly change the encoded amino acid sequence of the MCOLN1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs370093987, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MCOLN1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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