ClinVar Miner

Submissions for variant NC_000002.11:g.(?_32370032)_(32371757_?)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 RCV003119452 SCV003793023 pathogenic Hereditary spastic paraplegia 4 2022-09-10 criteria provided, single submitter clinical testing This variant disrupts a region of the SPAST protein in which other variant(s) (p.Arg562Gln) have been determined to be pathogenic (PMID: 11843700, 17971434, 19423133, 25326637, 27334366). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SPAST-related conditions. This variant results in the deletion of part of exon 15 (c.1643_1688-530del) of the SPAST gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283).

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