ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.59A>C (p.Glu20Ala)

gnomAD frequency: 0.00001  dbSNP: rs1478918808
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532482 SCV000651100 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-11-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 472120). 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 missense change has been observed in individual(s) with clinical features of FLNC-related conditions (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 20 of the FLNC protein (p.Glu20Ala).

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