ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.1419G>C (p.Trp473Cys)

dbSNP: rs1861180589
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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 RCV001270789 SCV001451550 likely pathogenic Cornelia de Lange syndrome 1 2019-08-12 criteria provided, single submitter clinical testing The SMC3 c.1419G>C (p.Trp437Cys) 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 not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the rarity of this variant, its identification in a de novo state, and application of the ACMG criteria, the p.Trp473Cys variant is classified as likely pathogenic for Cornelia de Lange syndrome.

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