ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12613A>G (p.Ile4205Val)

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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 RCV003070944 SCV003445395 benign Spastic paraplegia 2023-11-05 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999855 SCV005622083 uncertain significance not provided 2024-12-04 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) This variant has been identified in at least one individual with clinical features associated with this gene. Polyphen and MutationTaster predict this amino acid change may be damaging to the protein.

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