ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2546A>T (p.Asn849Ile)

dbSNP: rs755425307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066544 SCV001231558 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145333 SCV003831430 uncertain significance not provided 2022-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030618 SCV005017724 uncertain significance Cardiovascular phenotype 2023-11-03 criteria provided, single submitter clinical testing The p.N849I variant (also known as c.2546A>T), located in coding exon 16 of the FLNC gene, results from an A to T substitution at nucleotide position 2546. The asparagine at codon 849 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction 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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