ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.175T>A (p.Ser59Thr)

gnomAD frequency: 0.00007  dbSNP: rs539836931
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043293 SCV001207021 benign Spastic paraplegia 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001759750 SCV001997660 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Genome-Nilou Lab RCV001784587 SCV002026549 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160303 SCV003873989 uncertain significance Inborn genetic diseases 2023-01-20 criteria provided, single submitter clinical testing The c.175T>A (p.S59T) alteration is located in exon 4 (coding exon 3) of the SACS gene. This alteration results from a T to A substitution at nucleotide position 175, causing the serine (S) at amino acid position 59 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001784587 SCV002086759 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-08-27 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003953442 SCV004772896 uncertain significance SACS-related disorder 2024-02-27 no assertion criteria provided clinical testing The SACS c.175T>A variant is predicted to result in the amino acid substitution p.Ser59Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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