ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.346-5G>A

dbSNP: rs80258644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444580 SCV001647589 likely benign Spastic paraplegia 2022-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002560317 SCV003570289 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.346-5G>A intronic alteration consists of a G to A substitution 5 nucleotides before exon 6 (coding exon 5) of the SACS gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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