Submissions for variant NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg)

dbSNP: rs773588375

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003317355	SCV004021103	uncertain significance	not specified	2023-06-22	criteria provided, single submitter	clinical testing	Variant summary: SACS c.11101T>C (p.Trp3701Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251048 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.11101T>C has been reported in the literature in individuals affected with Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay (Park_2019). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 31475473). One ClinVar submitter has cited an Affected case to ClinVar after 2014, this case is also reported in Park_2019. Based on the evidence outlined above, the variant was classified as uncertain significance.
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	RCV000757941	SCV000882756	affects	Charlevoix-Saguenay spastic ataxia	2019-02-11	no assertion criteria provided	research	The proband has another variant, NM_014363.5: c.12973C>T (p.Arg4325*).