ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1413+1G>T (rs1553318276)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000497939 SCV000844075 pathogenic not provided 2018-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000497939 SCV000589638 pathogenic not provided 2017-05-11 criteria provided, single submitter clinical testing The c.1413+1 G>T splice site variant in the SPAST gene has been previously reported in an individual with hereditary spastic paraplegia (McDermott et al., 2006). This pathogenic variant destroys the canonical splice donor site in intron 11, and is expected to cause abnormal gene splicing. Other pathogenic splice variants, including one at the same position with a different nucleotide substitution (c.1413+1 G>A), have been reported in the Human Gene Mutation Database in association with spastic paraplegia type 4 (Stenson et al., 2014). Furthermore, the c.1413+1 G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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