ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1720A>G (p.Ile574Val)

gnomAD frequency: 0.00005  dbSNP: rs768073096
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310870 SCV000319319 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-15 criteria provided, single submitter clinical testing The p.I574V variant (also known as c.1720A>G), located in coding exon 12 of the FBN2 gene, results from an A to G substitution at nucleotide position 1720. The isoleucine at codon 574 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well 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.
Fulgent Genetics, Fulgent Genetics RCV000765802 SCV000897192 uncertain significance Congenital contractural arachnodactyly; Macular degeneration, early-onset 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000810490 SCV000950693 benign Congenital contractural arachnodactyly 2023-11-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692879 SCV005188579 uncertain significance not provided criteria provided, single submitter not provided

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