ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1225C>T (p.Arg409Ter) (rs202005455)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172502 SCV000051352 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000795188 SCV000934632 uncertain significance Dilated cardiomyopathy 1W 2018-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg409*) in the VCL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs202005455, ExAC 0.009%). This variant has not been reported in the literature in individuals with VCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 192104). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in VCL cause disease. 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.

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