ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)

gnomAD frequency: 0.00001  dbSNP: rs776290829
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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 RCV001288711 SCV001476023 uncertain significance not provided 2020-08-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001830101 SCV002803909 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541792 SCV003265449 likely benign Spastic paraplegia 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537977 SCV003534439 uncertain significance Inborn genetic diseases 2021-06-29 criteria provided, single submitter clinical testing The c.2585C>T (p.P862L) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to T substitution at nucleotide position 2585, causing the proline (P) at amino acid position 862 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830101 SCV002086715 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-02-04 no assertion criteria provided clinical testing

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