ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.4019C>T (p.Pro1340Leu)

gnomAD frequency: 0.00001  dbSNP: rs531174154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000260556 SCV000413302 uncertain significance Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859948 SCV002186135 uncertain significance not provided 2022-03-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1370 of the LTBP4 protein (p.Pro1370Leu). 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 variant has not been reported in the literature in individuals affected with LTBP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 329326). 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.

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