ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) (rs281865119)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000032007 SCV000798075 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-02-22 criteria provided, single submitter clinical testing
Invitae RCV001244900 SCV001418153 uncertain significance Spastic paraplegia 2019-07-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 3636 of the SACS protein (p.Arg3636Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs281865119, ExAC 0.002%). This variant has been observed on the same allele carrying a second variant (c.10954C>A, p.Pro3652Thr) in several families affected with clinical features of autosomal recessive spastic ataxia of Charlevoix-Saguenay in which this allele occurred in the homozygous state or in trans with an additional SACS variant on the opposite allele (PMID: 20876471). ClinVar contains an entry for this variant (Variation ID: 38457). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneReviews RCV000032007 SCV000054716 pathogenic Charlevoix-Saguenay spastic ataxia 2019-12-19 no assertion criteria provided literature only

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