ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3711A>C (p.Lys1237Asn)

dbSNP: rs758220780
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805240 SCV000945188 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001567298 SCV001790955 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345806 SCV002623094 uncertain significance Cardiovascular phenotype 2023-07-01 criteria provided, single submitter clinical testing The p.K1237N variant (also known as c.3711A>C), located in coding exon 21 of the FLNC gene, results from an A to C substitution at nucleotide position 3711. The lysine at codon 1237 is replaced by asparagine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, asparagine 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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