ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1135-1G>C

dbSNP: rs1057516458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412404 SCV000485708 likely pathogenic Mucolipidosis type IV 2016-02-01 criteria provided, single submitter clinical testing
Invitae RCV000412404 SCV003007097 pathogenic Mucolipidosis type IV 2022-08-31 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370398). Disruption of this splice site has been observed in individual(s) with Mucolipidosis IV (PMID: 33963976). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 9 of the MCOLN1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MCOLN1 are known to be pathogenic (PMID: 11030752, 11317355).

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