ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)

gnomAD frequency: 0.00001  dbSNP: rs770769237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002900029 SCV003247224 likely benign Spastic paraplegia 2023-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV003482423 SCV004229960 uncertain significance not provided 2023-08-01 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.
Ambry Genetics RCV004065999 SCV004943982 uncertain significance Inborn genetic diseases 2023-10-02 criteria provided, single submitter clinical testing The c.8795G>A (p.R2932Q) 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 8795, causing the arginine (R) at amino acid position 2932 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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