ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.635A>G (p.Asn212Ser)

gnomAD frequency: 0.00001  dbSNP: rs756723697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699223 SCV000827924 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360787 SCV002658026 uncertain significance Cardiovascular phenotype 2021-04-21 criteria provided, single submitter clinical testing The p.N212S variant (also known as c.635A>G), located in coding exon 3 of the FLNC gene, results from an A to G substitution at nucleotide position 635. The asparagine at codon 212 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other 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.

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