ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)

gnomAD frequency: 0.00006  dbSNP: rs200707453
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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 RCV001288699 SCV001476009 uncertain significance not provided 2022-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541790 SCV003267999 likely benign Spastic paraplegia 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542996 SCV003527641 uncertain significance Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.12190C>A (p.P4064T) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to A substitution at nucleotide position 12190, causing the proline (P) at amino acid position 4064 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001835372 SCV003820633 uncertain significance Charlevoix-Saguenay spastic ataxia 2022-10-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835372 SCV002086133 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-03-19 no assertion criteria provided clinical testing

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