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
Invitae 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.
PreventionGenetics, part of Exact Sciences RCV003953442 SCV004772896 uncertain significance SACS-related condition 2024-02-27 criteria provided, single submitter 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.
Natera, Inc. RCV001784587 SCV002086759 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-08-27 no assertion criteria provided clinical testing

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