ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9551G>A (p.Arg3184His)

gnomAD frequency: 0.00006  dbSNP: rs200453385
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689777 SCV000817443 likely benign Spastic paraplegia 2024-03-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849054 SCV002105116 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958003 SCV005498824 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The c.9551G>A (p.R3184H) 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 9551, causing the arginine (R) at amino acid position 3184 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829908 SCV002086193 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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