ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1413+6T>C

dbSNP: rs1553318284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663585 SCV001880486 pathogenic not provided 2021-03-06 criteria provided, single submitter clinical testing This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual, including a de novo case, with clinical features associated with this gene. Assessment of experimental evidence suggests this variant results in abnormal protein function. This variant will result in premature termination of the protein due to abnormal RNA splicing (PMID:15248095).
GeneDx RCV001663585 SCV003842785 likely pathogenic not provided 2022-09-16 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on splicing with skipping of exon 11 in a patient with hereditary spastic paraplegia (Svenson et al., 2004); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 15248095, 31157359, 27334366)
Mayo Clinic Laboratories, Mayo Clinic RCV001663585 SCV005413214 likely pathogenic not provided 2023-12-06 criteria provided, single submitter clinical testing PM2_moderate, PM6, PS3

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