ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8693G>A (p.Arg2898His)

gnomAD frequency: 0.00003  dbSNP: rs201977288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530318 SCV000629483 likely benign Spastic paraplegia 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525291 SCV003530573 uncertain significance Inborn genetic diseases 2021-04-28 criteria provided, single submitter clinical testing The c.8693G>A (p.R2898H) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a G to A substitution at nucleotide position 8693, causing the arginine (R) at amino acid position 2898 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274928 SCV001459489 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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