ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu)

gnomAD frequency: 0.00004  dbSNP: rs201690040
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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 RCV000804057 SCV000943949 likely benign Spastic paraplegia 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001830740 SCV002787684 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028161 SCV004943971 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.6409C>G (p.Q2137E) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to G substitution at nucleotide position 6409, causing the glutamine (Q) at amino acid position 2137 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830740 SCV002086239 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-27 no assertion criteria provided clinical testing

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