ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)

dbSNP: rs200930332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002474411 SCV002770997 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002571522 SCV003255543 likely benign Spastic paraplegia 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004064264 SCV004944907 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.11296G>A (p.V3766I) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a G to A substitution at nucleotide position 11296, causing the valine (V) at amino acid position 3766 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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