ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.442+5G>T (rs752482400)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000984469 SCV000999004 uncertain significance Spastic paraplegia 11, autosomal recessive 2019-09-12 criteria provided, single submitter clinical testing A homozygous 5' splice site variation in intron 2 of the SPG11 gene that affects the position 5 nucleotides downstream of donor splice site of exon 2 was detected. The observed variant c.442+5G>T (Splice site) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2 and DANN. The observed variant has been predicted to result in altered splicing by Human Splicing Finder. The reference base is conserved across species.

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