ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)

gnomAD frequency: 0.00032  dbSNP: rs190617851
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697081 SCV000825671 likely benign Spastic paraplegia 2024-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001756213 SCV001997661 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in the homozygous state in two siblings with developmental delay and craniofacial dysmorphism (Volk et al., 2015); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25852444)
Genome-Nilou Lab RCV001271970 SCV002026684 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001756213 SCV002568281 uncertain significance not provided 2022-04-04 criteria provided, single submitter clinical testing PM2
CeGaT Center for Human Genetics Tuebingen RCV001756213 SCV005434744 uncertain significance not provided 2024-09-01 criteria provided, single submitter clinical testing SACS: PM2:Supporting, BP4
Natera, Inc. RCV001271970 SCV001453562 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003953240 SCV004774494 uncertain significance SACS-related disorder 2024-02-27 no assertion criteria provided clinical testing The SACS c.1562G>C variant is predicted to result in the amino acid substitution p.Ser521Thr. This variant has been reported in the homozygous state in two siblings with dysmorphic facies and global developmental delay (Case 5, Table 2, Volk et al. 2015. PubMed ID: 25852444). This variant is reported in 0.076% 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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