ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.415+1G>T (rs1057521135)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422615 SCV000521175 pathogenic not provided 2016-04-25 criteria provided, single submitter clinical testing The c.415+1 splice variant has been reported previously in an individual with sporadic spastic paraplegia (Depienne et al., 2006). It destroys the canonical splice donor site in intron 1 and is expected to cause abnormal gene splicing. Other splice variants pathogenic variants, including one at the same position with a different nucleotide substitution (c.415+1 G>A), have been reported in the Human Gene Mutation Database in association with spastic paraplegia (Depienne et al., 2006; Stenson et al., 2014).

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