ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.3476G>A (p.Arg1159Gln) (rs141199483)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418627 SCV000513069 likely benign not provided 2020-08-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Blueprint Genetics RCV000418627 SCV000928107 uncertain significance not provided 2018-12-09 criteria provided, single submitter clinical testing
Invitae RCV000812023 SCV000952321 uncertain significance Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2020-06-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1159 of the FLNC protein (p.Arg1159Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs141199483, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with FLNC-related disease. ClinVar contains an entry for this variant (Variation ID: 377889). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000418627 SCV001155265 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing

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