ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.6390C>T (p.Gly2130=) (rs746751083)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598569 SCV000710044 uncertain significance not provided 2018-08-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FLNC gene. The G2130G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G2130G variant is observed in 3/17246 (0.017%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000546299 SCV000651118 uncertain significance Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2018-11-09 criteria provided, single submitter clinical testing This sequence change affects codon 2130 of the FLNC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FLNC protein. This variant is present in population databases (rs746751083, ExAC 0.01%). This variant has not been reported in the literature in individuals with a FLNC-related disease. 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. In summary, this variant has uncertain impact on FLNC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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