ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr)

gnomAD frequency: 0.00008  dbSNP: rs372251350
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488163 SCV000575536 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing FLNC: BP4
Invitae RCV000694275 SCV000822711 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000488163 SCV001475127 uncertain significance not provided 2020-01-24 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002289657 SCV002580509 uncertain significance Distal myopathy with posterior leg and anterior hand involvement 2022-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367662 SCV002664926 uncertain significance Cardiovascular phenotype 2023-09-26 criteria provided, single submitter clinical testing The p.A2273T variant (also known as c.6817G>A), located in coding exon 41 of the FLNC gene, results from a G to A substitution at nucleotide position 6817. The alanine at codon 2273 is replaced by threonine, an amino acid with similar properties. This alteration was reported in a control cohort (Janssens J et al. Acta Neuropathol Commun, 2015 Nov;3:68). This amino acid position is not well conserved in available vertebrate species. 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.

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