ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6190G>A (p.Val2064Met)

gnomAD frequency: 0.00004  dbSNP: rs756710545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001904639 SCV002124617 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039712 SCV004871162 uncertain significance Cardiovascular phenotype 2023-12-16 criteria provided, single submitter clinical testing The c.6190G>A (p.V2064M) alteration is located in exon 37 (coding exon 37) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 6190, causing the valine (V) at amino acid position 2064 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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