ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.970C>T (p.Arg324Cys) (rs779720018)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000293914 SCV000333793 uncertain significance not provided 2015-08-28 criteria provided, single submitter clinical testing
Invitae RCV000554362 SCV000639242 uncertain significance Dilated cardiomyopathy 1O 2017-08-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 324 of the ABCC9 protein (p.Arg324Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ABCC9-related disease. ClinVar contains an entry for this variant (Variation ID: 282363). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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