ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1056del (p.Ala353fs) (rs1553315336)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599303 SCV000710103 pathogenic not provided 2017-11-20 criteria provided, single submitter clinical testing The c.1056delA pathogenic variant in the SPAST gene causes a frameshift starting with codon Alanine 353, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Ala353HisfsX11. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1056delA variant is not observed in large population cohorts (Lek et al., 2016).

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