ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2557C>T (p.Pro853Ser)

gnomAD frequency: 0.00001  dbSNP: rs374302753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237752 SCV001410526 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436933 SCV002745177 uncertain significance Cardiovascular phenotype 2021-06-30 criteria provided, single submitter clinical testing The p.P853S variant (also known as c.2557C>T), located in coding exon 17 of the FLNC gene, results from a C to T substitution at nucleotide position 2557. The proline at codon 853 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003223710 SCV003919546 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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