ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1748C>T (p.Thr583Ile)

dbSNP: rs2128935128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001983607 SCV002276539 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-02-25 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 583 of the FLNC protein (p.Thr583Ile).
Ambry Genetics RCV002398068 SCV002711381 uncertain significance Cardiovascular phenotype 2019-11-01 criteria provided, single submitter clinical testing The p.T583I variant (also known as c.1748C>T), located in coding exon 11 of the FLNC gene, results from a C to T substitution at nucleotide position 1748. The threonine at codon 583 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is well 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.

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