ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2672C>T (p.Thr891Met)

gnomAD frequency: 0.00001  dbSNP: rs766023596
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060654 SCV001225358 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 RCV002429687 SCV002741304 uncertain significance Cardiovascular phenotype 2023-11-01 criteria provided, single submitter clinical testing The p.T891M variant (also known as c.2672C>T), located in coding exon 18 of the FLNC gene, results from a C to T substitution at nucleotide position 2672. The threonine at codon 891 is replaced by methionine, an amino acid with similar properties. This variant has been detected in an individual from a hypertrophic cardiomyopathy cohort who was indicated as having another causative variant detected; however, details were limited (Cui H et al. Mol Genet Genomic Med, 2018 11;6:1104-1113). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145319 SCV003833142 uncertain significance not provided 2021-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003393829 SCV004120247 uncertain significance FLNC-related disorder 2023-04-18 criteria provided, single submitter clinical testing The FLNC c.2672C>T variant is predicted to result in the amino acid substitution p.Thr891Met. This variant was reported in an individual with hypertrophic cardiomyopathy; however, this individual also harbored an additional variant that was not described in details (Table 1, Cui et al. 2018. PubMed ID: 30411535). This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128483492-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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