ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.596del (p.Gly199fs)

dbSNP: rs752843742
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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 RCV001231276 SCV001403791 pathogenic Hereditary spastic paraplegia 7 2023-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly199Glufs*10) 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). This variant is present in population databases (rs752843742, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. ClinVar contains an entry for this variant (Variation ID: 958161). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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