ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)

gnomAD frequency: 0.00002  dbSNP: rs760556327
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992785 SCV001145326 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549810 SCV003270758 likely benign Spastic paraplegia 2024-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004962982 SCV005498789 uncertain significance Inborn genetic diseases 2024-08-15 criteria provided, single submitter clinical testing The c.2686C>T (p.L896F) 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 2686, causing the leucine (L) at amino acid position 896 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001832307 SCV002086713 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-08-04 no assertion criteria provided clinical testing

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