ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.247T>C (p.Leu83=)

dbSNP: rs1470292816
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712968 SCV000843528 uncertain significance not provided 2024-04-24 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) Five splicing algorithms were used to analyze the possible effect of this variant on splicing. The majority of the algorithms failed to recognize the nearest natural splice sites, therefore the effect of this variant on normal splicing cannot be determined.
Labcorp Genetics (formerly Invitae), Labcorp RCV003750820 SCV004533223 likely benign Spastic paraplegia 2023-10-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825424 SCV002086758 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-08-29 no assertion criteria provided clinical testing

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