ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.508C>T (p.Gln170Ter)

dbSNP: rs886039695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255494 SCV000322642 pathogenic not provided 2016-08-24 criteria provided, single submitter clinical testing The Q170X variant in the SPAST gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q170X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Q170X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001038756 SCV001202245 pathogenic Hereditary spastic paraplegia 4 2022-06-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 265647). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 31751864). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln170*) in the SPAST gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283).
GenomeConnect - Brain Gene Registry RCV001038756 SCV002547302 not provided Hereditary spastic paraplegia 4 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 02-23-2021 by lab or GTR ID 239772. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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