ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn)

gnomAD frequency: 0.00021  dbSNP: rs371244800
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696812 SCV000825391 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001585638 SCV001812673 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 574790; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002388272 SCV002668931 uncertain significance Cardiovascular phenotype 2022-07-13 criteria provided, single submitter clinical testing The p.S2500N variant (also known as c.7499G>A), located in coding exon 45 of the FLNC gene, results from a G to A substitution at nucleotide position 7499. The serine at codon 2500 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001585638 SCV003833082 uncertain significance not provided 2022-04-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001585638 SCV004563766 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing The FLNC c.7499G>A; p.Ser2500Asn variant (rs371244800), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 574790). This variant is found in the African population with an allele frequency of 0.09% (21/24,198 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.421). Due to limited information, the clinical significance of this variant is uncertain at this time.

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