ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)

gnomAD frequency: 0.00054  dbSNP: rs139387396
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001644779 SCV000843538 likely benign not specified 2021-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086156 SCV001004257 likely benign Spastic paraplegia 2024-07-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849074 SCV002105051 uncertain significance Hereditary spastic paraplegia 2020-01-02 criteria provided, single submitter clinical testing
GeneDx RCV002245624 SCV002513023 uncertain significance not provided 2022-04-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003907976 SCV004724828 likely benign SACS-related disorder 2023-11-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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