ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3200G>C (p.Gly1067Ala)

dbSNP: rs1751146734
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001254912 SCV001397467 uncertain significance Congenital contractural arachnodactyly 2020-03-12 criteria provided, single submitter clinical testing The variant c.3200G>C (p.Gly1067Ala) has not been reported in dbSNP, gnomAD, 1000 Genomes, NHLBI Exome Sequencing Project (ESP) or ClinVar. The nucleotide position is conserved across 35 mammalian species (GERP RS: 4.05). In silico analysis indicates that the variant might be damaging. It should be noted that pathogenic variants in the FBN2 gene are located in the central region of the gene (exons 24-35). Both the negative dominant effect and loss-of-function can be a pathogenic mechanism of FBN2 mutations (Callewaert, 2019, PMID: 20301560). Based on ACMG variant interpretation guidelines, we classify this variant as uncertain. However, on the basis of the aforementioned evidence, there is a given likelihood that the variant may actually be pathogenic, even if we cannot exclude that it is a rare benign variant.

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