ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)

gnomAD frequency: 0.00008  dbSNP: rs745650222
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548109 SCV000651064 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001755876 SCV001995310 uncertain significance not provided 2019-12-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (ClinVar Variant ID# 472094; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002350342 SCV002646677 uncertain significance Cardiovascular phenotype 2023-08-11 criteria provided, single submitter clinical testing The p.P1739L variant (also known as c.5216C>T), located in coding exon 31 of the FLNC gene, results from a C to T substitution at nucleotide position 5216. The proline at codon 1739 is replaced by leucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002483475 SCV002786006 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-08-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001755876 SCV003831433 uncertain significance not provided 2022-12-28 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002483475 SCV003919980 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-03-30 criteria provided, single submitter clinical testing FLNC NM_001458.4 exon 31 p.Pro1739Leu (c.5216C<T): This variant has not been reported in the literature but is present in 0.005% (6/109016) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/7-128490046-C-T). This variant is present in ClinVar (Variation ID:472094). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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