ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)

gnomAD frequency: 0.00017  dbSNP: rs375968367
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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 RCV000700961 SCV000829740 benign Spastic paraplegia 2023-09-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002473121 SCV002770991 uncertain significance not provided 2022-12-20 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 higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
Ambry Genetics RCV002533606 SCV003637234 uncertain significance Inborn genetic diseases 2022-09-08 criteria provided, single submitter clinical testing The c.2492A>G (p.E831G) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a A to G substitution at nucleotide position 2492, causing the glutamic acid (E) at amino acid position 831 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001271967 SCV001453557 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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