ClinVar Miner

Submissions for variant NM_012064.4(MIP):c.606+1G>C

dbSNP: rs1220143491
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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 RCV001381265 SCV001579586 pathogenic Cataract 15 multiple types 2022-02-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the MIP gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with congenital cataracts (PMID: 24319327). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1069403). 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 may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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