ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6642C>T (p.Gly2214=)

gnomAD frequency: 0.00003  dbSNP: rs546247674
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649118 SCV000770943 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-06-12 criteria provided, single submitter clinical testing
GeneDx RCV001771894 SCV001992089 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 539389; Landrum et al., 2016)
Ambry Genetics RCV002360622 SCV002663234 uncertain significance Cardiovascular phenotype 2021-12-08 criteria provided, single submitter clinical testing The c.6642C>T variant (also known as p.G2214G), located in coding exon 40 of the FLNC gene, results from a C to T substitution at nucleotide position 6642. This nucleotide substitution does not change the glycine at codon 2214. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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