ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.212T>C (p.Ile71Thr)

dbSNP: rs1554396387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532536 SCV000650934 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-03-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 471998). This missense change has been observed in individual(s) with FLNC-related disorders (arrhythmia and cardiomyopathy) (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 71 of the FLNC protein (p.Ile71Thr).
Ambry Genetics RCV002420500 SCV002729985 uncertain significance Cardiovascular phenotype 2022-01-17 criteria provided, single submitter clinical testing The p.I71T variant (also known as c.212T>C), located in coding exon 1 of the FLNC gene, results from a T to C substitution at nucleotide position 212. The isoleucine at codon 71 is replaced by threonine, 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.
Revvity Omics, Revvity RCV003488685 SCV004234822 uncertain significance not provided 2023-03-16 criteria provided, single submitter clinical testing

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