ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.4604G>A (p.Cys1535Tyr)

gnomAD frequency: 0.00034  dbSNP: rs200665923
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996930 SCV001151929 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000996930 SCV001823687 uncertain significance not provided 2020-12-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000996930 SCV002124398 uncertain significance not provided 2022-07-03 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 1565 of the LTBP4 protein (p.Cys1565Tyr). This variant is present in population databases (rs200665923, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with LTBP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 808586). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV002481784 SCV002788552 uncertain significance Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2022-01-20 criteria provided, single submitter clinical testing

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