ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys)

gnomAD frequency: 0.00004  dbSNP: rs782779958
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726126 SCV000342156 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000726126 SCV000573217 uncertain significance not provided 2024-05-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002314025 SCV000849219 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-04-04 criteria provided, single submitter clinical testing The p.E2051K variant (also known as c.6151G>A), located in coding exon 36 of the FLNA gene, results from a G to A substitution at nucleotide position 6151. The glutamic acid at codon 2051 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000726126 SCV001715434 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855201 SCV002315877 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2025-01-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323495 SCV004029203 uncertain significance not specified 2023-07-30 criteria provided, single submitter clinical testing

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