ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2280C>T (p.Cys760=)

gnomAD frequency: 0.00002  dbSNP: rs567932275
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000732366 SCV000532435 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Eurofins Ntd Llc (ga) RCV000732366 SCV000860318 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087449 SCV001008000 likely benign Hereditary spastic paraplegia 11 2023-12-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848788 SCV002105680 uncertain significance Hereditary spastic paraplegia 2017-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446735 SCV002736252 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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