ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile)

gnomAD frequency: 0.00002  dbSNP: rs762108847
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199119 SCV000250217 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Does not occur within a calcium-binding-EGF-like domain (Callewaert et al., 2009, Frederic et al., 2009); Not located within exons 24-33, where the majority of pathogenic variants reported to date occur (Callewaert et al., 2009; Frederic et al., 2009); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19006240, 18767143, 28569743)
Ambry Genetics RCV000248047 SCV000317350 uncertain significance Cardiovascular phenotype 2014-11-20 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Illumina Laboratory Services, Illumina RCV000302604 SCV000452587 likely benign Congenital contractural arachnodactyly 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000302604 SCV001490250 likely benign Congenital contractural arachnodactyly 2023-05-15 criteria provided, single submitter clinical testing

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