ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4593C>G (p.Ile1531Met)

dbSNP: rs371988433
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000649178 SCV000771003 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-03-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1531 of the FLNC protein (p.Ile1531Met). This variant is present in population databases (rs371988433, gnomAD 0.0009%). ClinVar contains an entry for this variant (Variation ID: 539443). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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