ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.1228A>G (p.Ile410Val)

gnomAD frequency: 0.00002  dbSNP: rs1057522892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442080 SCV000529862 likely benign not specified 2016-08-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002522387 SCV002992409 uncertain significance not provided 2024-04-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 410 of the FBLN5 protein (p.Ile410Val). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FBLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 387737). 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 with a negative predictive value of 80%. 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.
Ambry Genetics RCV003168677 SCV003892763 uncertain significance Inborn genetic diseases 2023-01-20 criteria provided, single submitter clinical testing The c.1228A>G (p.I410V) alteration is located in exon 11 (coding exon 11) of the FBLN5 gene. This alteration results from a A to G substitution at nucleotide position 1228, causing the isoleucine (I) at amino acid position 410 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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