ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.3547_3548delinsCT (p.Ala1183Leu) (rs1131692185)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre RCV000495855 SCV000583602 likely pathogenic Cardiomyopathy, familial hypertrophic, 26 2017-06-12 criteria provided, single submitter research The variant is absent in both parents so presumably suggested to be de novo even though the paternity verification was not performed. The patient presented with severe restrictive cardiomyopathy with moderate myocardial hypertrophy during the first year of life accompanied by mild limb girdle and proximal muscle weakness. No severe arrhythmias or signs and of central nervous system involvement are detected. The patient was listed to heart transplantation list at the age of 3 due to progressive heart failure. The two nucleotide change in FLNC resulted in A1183L predicted to be deleterious by prediction analysis.

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