ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.314del (p.Pro105fs)

dbSNP: rs2148685718
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001530403 SCV001739512 likely pathogenic Hereditary spastic paraplegia 4 2021-07-02 criteria provided, single submitter clinical testing The variant c.314del (p.(Pro105Argfs*56)) in exon 1 of the SPAST gene is not found in the gnomAD database and creates a frame shift starting at codon Pro105. The new reading frame ends in a STOP codon at position 56. Frame shift mutations within this gene are a known mechanism of disease. This variant was found in one of our patients affected by spastic paraplegia. ACMG criteria used for classification: PVS1, PM2.

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