ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.29del (p.Pro10fs)

dbSNP: rs1057516837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409439 SCV000486304 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-05-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003750785 SCV004387270 pathogenic Spastic paraplegia 2023-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro10Argfs*2) in the SACS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SACS-related conditions. ClinVar contains an entry for this variant (Variation ID: 370878). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000409439 SCV005055545 likely pathogenic Charlevoix-Saguenay spastic ataxia 2024-01-08 criteria provided, single submitter clinical testing

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