ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2329T>C (p.Ser777Pro)

gnomAD frequency: 0.00014  dbSNP: rs147837803
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772609 SCV001993185 uncertain significance not provided 2019-08-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31692161)
Labcorp Genetics (formerly Invitae), Labcorp RCV002034472 SCV002227436 benign Spastic paraplegia 2023-11-04 criteria provided, single submitter clinical testing

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