ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.143C>T (p.Thr48Ile)

gnomAD frequency: 0.00026  dbSNP: rs141200859
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331565 SCV001523628 uncertain significance Cutis laxa, autosomal dominant 2 2019-03-27 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 RCV001865743 SCV002175386 uncertain significance not provided 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 48 of the FBLN5 protein (p.Thr48Ile). This variant is present in population databases (rs141200859, gnomAD 0.06%). This missense change has been observed in individual(s) with age-related macular degeneration (PMID: 21576112). ClinVar contains an entry for this variant (Variation ID: 1030095). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV001865743 SCV002574682 uncertain significance not provided 2022-09-12 criteria provided, single submitter clinical testing Reported in a female patient with age-related macular degeneration, hand muscle atrophy, and gait disturbance (Auer-Grumbach M et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21576112)
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447321 SCV004174391 uncertain significance Age-related macular degeneration 2016-01-06 no assertion criteria provided literature only

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