ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.727C>G (p.Leu243Val)

gnomAD frequency: 0.00001  dbSNP: rs764837003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003751601 SCV004560717 likely benign Spastic paraplegia 2023-05-20 criteria provided, single submitter clinical testing
GeneDx RCV004765978 SCV005378316 uncertain significance not provided 2023-11-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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