ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr)

gnomAD frequency: 0.00011  dbSNP: rs377141822
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557063 SCV000651079 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532120 SCV001747532 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing FLNC: BS1
Ambry Genetics RCV002350349 SCV002652778 uncertain significance Cardiovascular phenotype 2023-03-24 criteria provided, single submitter clinical testing The p.H1834Y variant (also known as c.5500C>T), located in coding exon 33 of the FLNC gene, results from a C to T substitution at nucleotide position 5500. The histidine at codon 1834 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001532120 SCV004036886 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001532120 SCV004234814 uncertain significance not provided 2023-02-27 criteria provided, single submitter clinical testing

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