ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)

gnomAD frequency: 0.00006  dbSNP: rs755723511
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992793 SCV001145340 uncertain significance not provided 2019-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001362985 SCV001559054 likely benign Spastic paraplegia 2024-02-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001784523 SCV002026512 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030146 SCV004943970 uncertain significance Inborn genetic diseases 2021-12-13 criteria provided, single submitter clinical testing The c.6364A>G (p.K2122E) 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 6364, causing the lysine (K) at amino acid position 2122 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001784523 SCV002086241 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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