ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.1307T>A (p.Val436Glu)

dbSNP: rs1453600644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334532 SCV001527404 uncertain significance Cutis laxa, autosomal dominant 2 2018-06-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546686 SCV003243095 uncertain significance not provided 2023-06-03 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FBLN5 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1032428). This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 436 of the FBLN5 protein (p.Val436Glu). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FBLN5-related conditions.

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