ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2546A>G (p.Asn849Ser)

dbSNP: rs755425307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701522 SCV000830325 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2021-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026560 SCV004871152 uncertain significance Cardiovascular phenotype 2023-12-18 criteria provided, single submitter clinical testing The c.2546A>G (p.N849S) alteration is located in exon 16 (coding exon 16) of the FLNC gene. This alteration results from a A to G substitution at nucleotide position 2546, causing the asparagine (N) at amino acid position 849 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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