ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1134del (p.Ile379fs)

dbSNP: rs1060501038
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475710 SCV000544855 pathogenic Marfan syndrome 2016-10-01 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 10 of the FBN1 mRNA (c.1134delC), causing a frameshift at codon 379. This creates a premature translational stop signal (p.Ile379Serfs*16) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002313163 SCV000738838 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2016-09-09 criteria provided, single submitter clinical testing The c.1134delC pathogenic mutation, located in coding exon 9 of the FBN1 gene, results from a deletion of one nucleotide at position 1134, causing a translational frameshift with a predicted alternate stop codon (p.I379Sfs*16). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001380008 SCV001577931 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2016-10-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). This sequence change deletes 1 nucleotide from exon 10 of the FBN1 mRNA (c.1134delC), causing a frameshift at codon 379. This creates a premature translational stop signal (p.Ile379Serfs*16) and is expected to result in an absent or disrupted protein product.

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