Submissions for variant NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser)

gnomAD frequency: 0.00011  dbSNP: rs200928780

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000649071	SCV000770896	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	RCV001771891	SCV001992665	uncertain significance	not provided	2022-11-14	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 has a deleterious effect on protein structure/function
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	RCV002286771	SCV002577376	uncertain significance	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26	2022-05-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002360619	SCV002623684	uncertain significance	Cardiovascular phenotype	2022-07-15	criteria provided, single submitter	clinical testing	The p.G1285S variant (also known as c.3853G>A), located in coding exon 22 of the FLNC gene, results from a G to A substitution at nucleotide position 3853. The glycine at codon 1285 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001771891	SCV004234816	uncertain significance	not provided	2023-05-02	criteria provided, single submitter	clinical testing