ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln)

gnomAD frequency: 0.00001  dbSNP: rs370293647
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544906 SCV000651161 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
Fulgent Genetics, Fulgent Genetics RCV002491082 SCV002790196 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024199 SCV003526403 uncertain significance Cardiovascular phenotype 2021-09-28 criteria provided, single submitter clinical testing The c.7328G>A (p.R2443Q) alteration is located in exon 44 (coding exon 44) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 7328, causing the arginine (R) at amino acid position 2443 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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