ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg)

gnomAD frequency: 0.00003  dbSNP: rs1469272964
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246304 SCV001419648 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001587279 SCV001825795 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002491831 SCV002777351 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568650 SCV003642461 uncertain significance Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.4911C>G (p.S1637R) alteration is located in exon 28 (coding exon 28) of the FLNC gene. This alteration results from a C to G substitution at nucleotide position 4911, causing the serine (S) at amino acid position 1637 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001587279 SCV003831452 uncertain significance not provided 2021-02-16 criteria provided, single submitter clinical testing

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