ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.978del (p.Arg327fs)

dbSNP: rs1060501094
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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 RCV000460221 SCV000544953 pathogenic Marfan syndrome 2016-06-13 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 9 of the FBN1 mRNA (c.978delC), causing a frameshift at codon 327. This creates a premature translational stop signal (p.Arg327Aspfs*3) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001389424 SCV001590785 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2016-06-13 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 9 of the FBN1 mRNA (c.978delC), causing a frameshift at codon 327. This creates a premature translational stop signal (p.Arg327Aspfs*3) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001843950 SCV002103263 pathogenic not provided 2021-12-22 criteria provided, single submitter clinical testing PP4, PM2, PVS1

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