ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)

gnomAD frequency: 0.00001  dbSNP: rs776143384
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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 RCV000992802 SCV001145354 uncertain significance not provided 2023-07-18 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549812 SCV003014695 likely benign Spastic paraplegia 2024-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958354 SCV005498774 uncertain significance Inborn genetic diseases 2024-11-09 criteria provided, single submitter clinical testing The c.9677A>G (p.Y3226C) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a A to G substitution at nucleotide position 9677, causing the tyrosine (Y) at amino acid position 3226 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001273197 SCV001455919 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-02-13 no assertion criteria provided clinical testing

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