ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile)

gnomAD frequency: 0.00001  dbSNP: rs775077572
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001249780 SCV001423815 uncertain significance De Lange syndrome 2019-12-02 criteria provided, single submitter clinical testing The NIPBL c.5054C>T (p.Thr1685Ile) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000087 in the Latino population of the Genome Aggregation Database. Based on the limited evidence, the p.Thr1685Ile variant is classified as a variant of unknown significance for Cornelia de Lange syndrome.

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