ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) (rs1160357920)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000578242 SCV000794598 likely pathogenic Spastic ataxia Charlevoix-Saguenay type 2017-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000578242 SCV000893322 pathogenic Spastic ataxia Charlevoix-Saguenay type 2018-10-31 criteria provided, single submitter clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000578242 SCV000680360 likely pathogenic Spastic ataxia Charlevoix-Saguenay type 2017-11-08 criteria provided, single submitter clinical testing
Invitae RCV000536906 SCV000629469 pathogenic Spastic paraplegia 2017-10-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1582 of the SACS protein (p.Asp1582Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another SACS variant in several individuals affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (PMID: 23250129). Western blot analysis on lymphoblast protein from an individual who was heterozygous for this missense variant showed a reduction of sacsin protein compared to wild-type protein (PMID: 23250129). For these reasons, this variant has been classified as Pathogenic.

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