ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.470A>G (p.Tyr157Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002987377 SCV003707950 uncertain significance Inborn genetic diseases 2021-05-20 criteria provided, single submitter clinical testing The c.470A>G (p.Y157C) alteration is located in exon 7 (coding exon 6) of the SACS gene. This alteration results from a A to G substitution at nucleotide position 470, causing the tyrosine (Y) at amino acid position 157 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140206 SCV003820612 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-11-11 criteria provided, single submitter clinical testing

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