ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.8130G>A (p.Trp2710Ter) (rs121909518)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052798 SCV001217024 pathogenic Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2019-12-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FLNC gene (p.Trp2710*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acids of the FLNC protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with filaminopathy (PMID: 15929027, 22961544). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 18314). This variant has been reported to affect FLNC protein function (PMID: 22961544, 26472074, 26969713). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091493 SCV001247569 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing
OMIM RCV000019978 SCV000040276 pathogenic Myofibrillar myopathy, filamin C-related 2007-06-01 no assertion criteria provided literature only

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