ClinVar Miner

Submissions for variant NC_000002.11:g.(?_32372267)_(32372347_?)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 RCV001975086 SCV002240212 pathogenic Hereditary spastic paraplegia 4 2022-02-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 16 of the SPAST gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. A similar copy number variant has been observed in individuals with hereditary spastic paraplegia (PMID: 17098887, 25065914). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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