ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1942C>T (p.Arg648Cys)

dbSNP: rs763889449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243580 SCV002512306 uncertain significance Geleophysic dysplasia 3 2022-02-14 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 supporting, PM2 moderate, PP3 supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV003093933 SCV002979838 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-11-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 648 of the LTBP3 protein (p.Arg648Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with autosomal dominant LTBP3-related conditions (PMID: 33082559). ClinVar contains an entry for this variant (Variation ID: 1683537). 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 disruptive. 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.

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