ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys)

gnomAD frequency: 0.00003  dbSNP: rs765758197
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663542 SCV001880400 uncertain significance not provided 2020-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539647 SCV003288814 likely benign Spastic paraplegia 2024-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163787 SCV003864179 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The c.10255C>T (p.R3419C) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to T substitution at nucleotide position 10255, causing the arginine (R) at amino acid position 3419 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237949 SCV005885492 uncertain significance not specified 2025-02-12 criteria provided, single submitter clinical testing Variant summary: SACS c.10255C>T (p.Arg3419Cys) 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 2.4e-05 in 250876 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.10255C>T in individuals affected with Charlevoix-Saguenay spastic ataxia and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1256200). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001832843 SCV002086182 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-03-07 no assertion criteria provided clinical testing

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