ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5744A>G (p.His1915Arg) (rs144822691)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712979 SCV000843539 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765123 SCV000896345 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001245813 SCV001419125 uncertain significance Spastic paraplegia 2019-11-25 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 1915 of the SACS protein (p.His1915Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs144822691, ExAC 0.009%). This variant has not been reported in the literature in individuals with SACS-related conditions. ClinVar contains an entry for this variant (Variation ID: 586434). 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: "Benign"; 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000712979 SCV001715027 uncertain significance not provided 2020-09-28 criteria provided, single submitter clinical testing

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