ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)

gnomAD frequency: 0.00004  dbSNP: rs764992284
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195790 SCV001366210 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-10-31 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Invitae RCV002559244 SCV002998769 likely benign Spastic paraplegia 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002560209 SCV003660510 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.4724G>A (p.R1575Q) 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 4724, causing the arginine (R) at amino acid position 1575 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Athena Diagnostics Inc RCV003482337 SCV004229949 uncertain significance not provided 2023-08-23 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 damaging.

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