ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)

gnomAD frequency: 0.00002  dbSNP: rs774463808
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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 RCV000992775 SCV001145311 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549807 SCV003477570 benign Spastic paraplegia 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549806 SCV003690072 uncertain significance Inborn genetic diseases 2022-01-18 criteria provided, single submitter clinical testing The c.11302A>G (p.T3768A) 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 11302, causing the threonine (T) at amino acid position 3768 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001827136 SCV002086154 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-03-20 no assertion criteria provided clinical testing

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