ClinVar Miner

Submissions for variant NC_000002.12:g.(?_32063611)_(32064246_?)del

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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 RCV000468729 SCV000563913 pathogenic Hereditary spastic paraplegia 4 2016-07-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the SPAST gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the SPAST gene. This is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPAST are known to be pathogenic. This particular variant has been reported in the literature in multiple individuals affected with HSP and segregated with disease in several affected families (PMID: 15637712, 17098887, 22203332, 24451228, 24824479). For these reasons, this variant has been classified as Pathogenic.

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