ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7559C>A (p.Thr2520Asn)

dbSNP: rs1809086992
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001325407 SCV001516399 likely pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2020-11-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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"). This variant has been observed in individual(s) with clinical features of FLNC-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This sequence change replaces threonine with asparagine at codon 2520 of the FLNC protein (p.Thr2520Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine.

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