ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.1187C>T (p.Ala396Val)

gnomAD frequency: 0.00002  dbSNP: rs747708804
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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 RCV001002246 SCV001160122 uncertain significance Spondylocostal dysostosis 1, autosomal recessive 2018-12-12 criteria provided, single submitter clinical testing The DLL3 c.1187C>T; p.Ala396Val variant (rs747708804), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the Latino population with an allele frequency of 0.036% (8/22,304 alleles) in the Genome Aggregation Database. The alanine at codon 396 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Ala396Val variant is uncertain at this time.

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