ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3128A>G (p.Asp1043Gly) (rs1388335304)

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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 RCV001000951 SCV001158050 uncertain significance Familial dysautonomia 2018-12-26 criteria provided, single submitter clinical testing The ELP1 c.3128A>G; p.Asp1043Gly variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The aspartic acid at codon 1043 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Asp1043Gly variant is uncertain at this time.

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