ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) (rs281865120)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000032008 SCV000486129 pathogenic Charlevoix-Saguenay spastic ataxia 2016-04-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487627 SCV000574948 likely pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV001044731 SCV001208544 pathogenic Spastic paraplegia 2019-12-13 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.Gln4054*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 526 amino acids of the SACS protein. This variant is present in population databases (rs281865120, ExAC 0.003%). This variant has been observed in individuals affected with hereditary spastic paraplegia (PMID: 18465152, 27288452). ClinVar contains an entry for this variant (Variation ID: 38458). This variant disrupts the C-terminus of the SACS protein. Other variant(s) that disrupt this region (p.Glu4309*, p.Arg4325*, and p.Phe4352Leufs*11) have been determined to be pathogenic (PMID: 23497566, 26288984, 16944349). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000032008 SCV000054717 pathogenic Charlevoix-Saguenay spastic ataxia 2019-12-19 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000487627 SCV001741296 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000487627 SCV001809522 pathogenic not provided no assertion criteria provided clinical testing

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