ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)

gnomAD frequency: 0.00001  dbSNP: rs768855225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466338 SCV004209961 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588923 SCV004295464 likely benign Spastic paraplegia 2024-01-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004783067 SCV005394564 uncertain significance not specified 2024-09-12 criteria provided, single submitter clinical testing Variant summary: SACS c.1894C>T (p.Arg632Trp) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250800 control chromosomes. c.1894C>T has been reported in the literature in individuals affected with Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay (examples: Gazulle_2011 and Longo_2021). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 21665375, 34649874). ClinVar contains an entry for this variant (Variation ID: 2678528). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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