ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5670G>A (p.Gly1890=)

gnomAD frequency: 0.00001  dbSNP: rs369881758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878550 SCV001021473 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-01-14 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV001823749 SCV002073458 likely benign not specified 2022-01-18 criteria provided, single submitter clinical testing This synonymous variant is a silent variation that is not predicted to change the amino acid sequence of the protein and has occurred in gnomAD with a total MAF of 0.0004% and with the highest MAF of 0.0009% in the European population. This variant has been reported in ClinVar (707521) NM_001458.5(FLNC):c.5670G>A (p.Gly1890=). This position is not conserved. In silico splicing algorithms predicted no impact on splicing (dbscSNV= 0.09799). The variant has not occurred in the literature in the association with the disease. Considering it is a synonymous change that does not have an apparent effect on RNA splicing machinery, the variant has been classified as Likely Benign.
Ambry Genetics RCV002346042 SCV002653876 uncertain significance Cardiovascular phenotype 2022-07-18 criteria provided, single submitter clinical testing The c.5670G>A variant (also known as p.G1890G), located in coding exon 35 of the FLNC gene, results from a G to A substitution at nucleotide position 5670. This nucleotide substitution does not change the glycine at codon 1890. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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