ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001249842 SCV001423860 uncertain significance Weill-Marchesani syndrome 3 criteria provided, single submitter research LTBP2 c.3423C>A [p.D1141E] is a missense variant that changes a single amino acid from an aspartic acid to a glutamic acid. This is a rare variant present in population databases at low allele frequency (gnomAD); however this variant has not been previously reported in association with eye disorders and is of uncertain clinical significance.

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