ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.221A>C (p.Glu74Ala)

dbSNP: rs1600751637
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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 RCV001001027 SCV001158135 uncertain significance Spondylocostal dysostosis 1, autosomal recessive 2019-01-24 criteria provided, single submitter clinical testing The DLL3 c.221A>C; p.Glu74Ala variant, to our knowledge, is not described in the medical literature or in gene-specific databases. It is also absent from general population databases (Exome Variant Server and Genome Aggregation Database), indicating it is not a common polymorphism. The glutamic acid at codon 74 is moderately conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.

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