ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile)

gnomAD frequency: 0.00007  dbSNP: rs147134796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786339 SCV000250140 uncertain significance not provided 2022-08-15 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 does not alter protein structure/function; Not located within exons 24-33, where the majority of pathogenic variants reported to date occur (Callewaert et al., 2009, Frederic et al., 2009); This variant is associated with the following publications: (PMID: 19006240, 18767143)
Labcorp Genetics (formerly Invitae), Labcorp RCV000796581 SCV000936100 benign Congenital contractural arachnodactyly 2024-11-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277515 SCV002565988 likely benign Ehlers-Danlos syndrome 2019-11-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000796581 SCV001423278 not provided Congenital contractural arachnodactyly no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 07-16-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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