ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) (rs1568406407)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000779629 SCV000899108 pathogenic Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 2019-04-12 criteria provided, single submitter clinical testing The observed homozygous variant NM_001042544.1:c.2029C>T (p.R677*) is found in exon 13 of the LTBP4 gene. It is a null variant in a gene where loss of function is a known mechanism of disease and has not been found absent in general population (0.00% AFC South Asian frequency and ECGldb). Multiple lines of computational evidence support a deleterious effect of this variant on the gene or gene product. In summary, the R677* variant meets our criteria to be classified as pathogenic.

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