ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6703G>A (p.Gly2235Ser)

gnomAD frequency: 0.00001  dbSNP: rs752159793
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214108 SCV001385773 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365962 SCV002666217 uncertain significance Cardiovascular phenotype 2022-03-25 criteria provided, single submitter clinical testing The p.G2235S variant (also known as c.6703G>A), located in coding exon 40 of the FLNC gene, results from a G to A substitution at nucleotide position 6703. The glycine at codon 2235 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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.

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