ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)

gnomAD frequency: 0.00017  dbSNP: rs138379074
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538701 SCV000629478 likely benign Spastic paraplegia 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765122 SCV000896344 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000765122 SCV002026510 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528313 SCV003686877 uncertain significance Inborn genetic diseases 2021-06-02 criteria provided, single submitter clinical testing The c.6640C>T (p.R2214C) 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 6640, causing the arginine (R) at amino acid position 2214 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Athena Diagnostics Inc RCV003482278 SCV004229953 uncertain significance not provided 2022-12-28 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
Natera, Inc. RCV000765122 SCV001463598 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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