ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.234G>T (p.Leu78Phe)

gnomAD frequency: 0.00002  dbSNP: rs770487062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175748 SCV000227288 uncertain significance not provided 2014-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056943 SCV002423026 likely benign Hereditary spastic paraplegia 7 2024-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000175748 SCV005325759 uncertain significance not provided 2023-09-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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