ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.210-8T>G

gnomAD frequency: 0.00003  dbSNP: rs950646900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075863 SCV001241502 uncertain significance Retinal dystrophy 2019-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001302258 SCV001491457 uncertain significance not provided 2022-04-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This sequence change falls in intron 2 of the SNRNP200 gene. It does not directly change the encoded amino acid sequence of the SNRNP200 protein. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SNRNP200-related conditions. ClinVar contains an entry for this variant (Variation ID: 867218).

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