ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1863C>G (p.Asn621Lys) (rs746293391)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645329 SCV000767073 uncertain significance Dilated cardiomyopathy 1W 2017-12-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 621 of the VCL protein (p.Asn621Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs746293391, ExAC 0.002%). This variant has not been reported in the literature in individuals with VCL-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000786267 SCV000925018 uncertain significance not provided 2018-01-21 no assertion criteria provided provider interpretation

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