ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)

gnomAD frequency: 0.00006  dbSNP: rs375961779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538311 SCV000629452 likely benign Spastic paraplegia 2023-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV002473047 SCV002770990 uncertain significance not provided 2022-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527683 SCV003637233 uncertain significance Inborn genetic diseases 2022-08-24 criteria provided, single submitter clinical testing The c.11717C>T (p.A3906V) 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 11717, causing the alanine (A) at amino acid position 3906 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835845 SCV002086145 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-02-15 no assertion criteria provided clinical testing

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