ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.6923C>T (p.Pro2308Leu) (rs369250297)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558130 SCV000651142 uncertain significance Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2020-10-06 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 2308 of the FLNC protein (p.Pro2308Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs369250297, ExAC 0.004%). This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 30418145). ClinVar contains an entry for this variant (Variation ID: 472152). 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: Deleterious; PolyPhen-2: Probably 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.
GeneDx RCV001566239 SCV001789727 uncertain significance not provided 2021-08-03 criteria provided, single submitter clinical testing Identified in a patient with dilated cardiomyopathy in the published literature (Ader et al., 2018); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 472152; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect This variant is associated with the following publications: (PMID: 30418145)

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