ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.1398C>A (p.Phe466Leu)

dbSNP: rs777442783
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001363 SCV001158561 uncertain significance Spondylocostal dysostosis 1, autosomal recessive 2019-06-24 criteria provided, single submitter clinical testing The DLL3 c.1398C>A; p.Phe466Leu variant (rs777442783), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The phenylalanine at codon 466 is moderately conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Phe466Leu variant is uncertain at this time.

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