ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr)

gnomAD frequency: 0.00026  dbSNP: rs140028127
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243638 SCV001416807 likely benign Spastic paraplegia 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034757 SCV004943958 uncertain significance Inborn genetic diseases 2023-12-29 criteria provided, single submitter clinical testing The c.3443A>C (p.K1148T) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a A to C substitution at nucleotide position 3443, causing the lysine (K) at amino acid position 1148 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835177 SCV002086695 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-14 no assertion criteria provided clinical testing

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