ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.4808G>A (p.Arg1603His)

gnomAD frequency: 0.00011  dbSNP: rs75200417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001117087 SCV001275244 uncertain significance Weill-Marchesani syndrome 2017-09-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001117088 SCV001275245 uncertain significance Glaucoma 3, primary congenital, D 2017-09-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002556486 SCV003274472 uncertain significance not provided 2022-06-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1603 of the LTBP2 protein (p.Arg1603His). This variant is present in population databases (rs75200417, gnomAD 0.08%). This missense change has been observed in individual(s) with clinical features of LTBP2-related conditions (PMID: 19656777). ClinVar contains an entry for this variant (Variation ID: 885477). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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