ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)

gnomAD frequency: 0.00001  dbSNP: rs1269546947
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043294 SCV001207022 likely benign Spastic paraplegia 2023-11-19 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002280151 SCV002568270 uncertain significance not provided 2022-04-04 criteria provided, single submitter clinical testing PM2
Ambry Genetics RCV003160304 SCV003892725 uncertain significance Inborn genetic diseases 2023-01-20 criteria provided, single submitter clinical testing The c.5045G>A (p.R1682K) 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 5045, causing the arginine (R) at amino acid position 1682 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001832412 SCV002086261 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-08-27 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003953443 SCV004774241 uncertain significance SACS-related disorder 2024-02-27 no assertion criteria provided clinical testing The SACS c.5045G>A variant is predicted to result in the amino acid substitution p.Arg1682Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0050% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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