ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs)

dbSNP: rs768595656
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640978 SCV000762586 pathogenic Hereditary spastic paraplegia 7 2022-06-04 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with hereditary spastic paraplegia (HSP) (PMID: 16534102, 23065789). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Phe284Profs*45) 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 (rs768595656, gnomAD 0.006%).
Paris Brain Institute, Inserm - ICM RCV000640978 SCV001451037 pathogenic Hereditary spastic paraplegia 7 criteria provided, single submitter clinical testing
OMIM RCV000640978 SCV000027411 pathogenic Hereditary spastic paraplegia 7 2006-03-14 no assertion criteria provided literature only

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