ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.571-3C>G

dbSNP: rs1060502309
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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 RCV003766551 SCV002139432 uncertain significance Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2016-11-30 criteria provided, single submitter clinical testing In summary, this is a novel intronic change with uncertain impact on splicing. 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 alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a QARS-related disease. This sequence change falls in intron 6 of the QARS gene. It does not directly change the encoded amino acid sequence of the QARS protein.

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