ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg)

gnomAD frequency: 0.00006  dbSNP: rs1299454627
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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 RCV001359227 SCV001555090 likely benign Spastic paraplegia 2023-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034523 SCV004944905 uncertain significance Inborn genetic diseases 2023-11-17 criteria provided, single submitter clinical testing The c.10790A>G (p.Q3597R) 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 10790, causing the glutamine (Q) at amino acid position 3597 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001825992 SCV002086168 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-01-31 no assertion criteria provided clinical testing

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