ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser)

gnomAD frequency: 0.00018  dbSNP: rs201917318
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497397 SCV000590284 uncertain significance not provided 2020-08-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID#432546; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV000697254 SCV000825854 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367676 SCV002664157 uncertain significance Cardiovascular phenotype 2022-09-21 criteria provided, single submitter clinical testing The p.G2370S variant (also known as c.7108G>A), located in coding exon 42 of the FLNC gene, results from a G to A substitution at nucleotide position 7108. The glycine at codon 2370 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002506204 SCV002816585 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-11-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000497397 SCV003833120 uncertain significance not provided 2021-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000497397 SCV004224109 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing BS2

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