ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1045_1046delinsAGC (p.Gly349fs)

dbSNP: rs1060503425
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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 RCV000465046 SCV000552954 pathogenic Hereditary spastic paraplegia 7 2022-07-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SPG7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly349Serfs*47) in the SPG7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPG7 are known to be pathogenic (PMID: 21623769, 22964162).

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