ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.1572dup (p.Thr525fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204894 SCV001376123 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FLVCR1 gene (p.Thr525Tyrfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acids of the FLVCR1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FLVCR1-related conditions. 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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