ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2245G>A (p.Val749Met)

gnomAD frequency: 0.00001  dbSNP: rs763901270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807277 SCV000947321 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424880 SCV002731021 uncertain significance Cardiovascular phenotype 2023-10-17 criteria provided, single submitter clinical testing The c.2245G>A (p.V749M) alteration is located in exon 14 (coding exon 14) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 2245, causing the valine (V) at amino acid position 749 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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