ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile)

dbSNP: rs758080422
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518871 SCV000619027 uncertain significance not provided 2018-09-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FLNC gene. The V2267I variant has previously been reported in an individual with nemaline myopathy, however, additional detailed clinical information and segregation analysis was not provided (Savarese et al., 2014). This variant is observed in 7/102,928 alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016). V2267I is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.
Invitae RCV001042328 SCV001206004 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367735 SCV002666281 uncertain significance Cardiovascular phenotype 2021-10-19 criteria provided, single submitter clinical testing The p.V2267I variant (also known as c.6799G>A), located in coding exon 41 of the FLNC gene, results from a G to A substitution at nucleotide position 6799. The valine at codon 2267 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002481710 SCV002775477 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-01 criteria provided, single submitter clinical testing

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