ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser)

gnomAD frequency: 0.00015  dbSNP: rs199707920
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649155 SCV000770980 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-23 criteria provided, single submitter clinical testing
GeneDx RCV002051873 SCV002319179 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing Reported in at least one individual with HCM; however, p.(P1102S) was also identified in two control alleles (Gomez et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28356264)
Ambry Genetics RCV002458122 SCV002612131 uncertain significance Cardiovascular phenotype 2024-03-01 criteria provided, single submitter clinical testing The p.P1102S variant (also known as c.3304C>T), located in coding exon 21 of the FLNC gene, results from a C to T substitution at nucleotide position 3304. The proline at codon 1102 is replaced by serine, an amino acid with similar properties. This variant has been detected in a hypertrophic cardiomyopathy cohort, but was also detected in controls (Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10:). This amino acid position is highly conserved in available vertebrate species. 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.
Revvity Omics, Revvity RCV002051873 SCV003833158 uncertain significance not provided 2020-11-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150321 SCV003838384 uncertain significance Cardiomyopathy 2021-10-12 criteria provided, single submitter clinical testing

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