ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)

dbSNP: rs1057516365
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411818 SCV000485533 likely pathogenic Charlevoix-Saguenay spastic ataxia 2015-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001384946 SCV001584647 pathogenic Spastic paraplegia 2020-04-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). This variant has been observed in individual(s) with SACS-related conditions (PMID: 22816526). ClinVar contains an entry for this variant (Variation ID: 370271). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu410Serfs*2) in the SACS gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV000411818 SCV002027668 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411818 SCV004209987 pathogenic Charlevoix-Saguenay spastic ataxia 2023-05-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000411818 SCV002086741 pathogenic Charlevoix-Saguenay spastic ataxia 2021-05-20 no assertion criteria provided clinical testing

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