ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3872G>A (p.Arg1291His)

gnomAD frequency: 0.00007  dbSNP: rs370042010
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689109 SCV000816747 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001556998 SCV001778684 likely benign not provided 2021-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352129 SCV002620522 uncertain significance Cardiovascular phenotype 2021-11-09 criteria provided, single submitter clinical testing The c.3872G>A (p.R1291H) alteration is located in exon 22 (coding exon 22) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 3872, causing the arginine (R) at amino acid position 1291 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001556998 SCV003833205 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001556998 SCV004185490 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FLNC: BP4, BS2

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