ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.945del (p.Asn316fs)

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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 RCV005198118 SCV005834087 pathogenic Hereditary spastic paraplegia 4 2024-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn316Ilefs*13) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 12124993). For these reasons, this variant has been classified as Pathogenic.

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