ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1626_1627TC[1] (p.Leu543fs) (rs766155407)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472422 SCV000552955 pathogenic Spastic paraplegia 7 2016-11-02 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 12 of the SPG7 mRNA (c.1628_1629delTC), causing a frameshift at codon 543. This creates a premature translational stop signal (p.Leu543Glnfs*32) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SPG7 are known to be pathogenic (PMID: 23065789, 22964162). For these reasons, this variant has been classified as Pathogenic.

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