ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.128C>G (p.Thr43Ser) (rs1569552081)

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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 RCV000756072 SCV000883787 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing The EMD c.128C>G; p.Thr43Ser variant, to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The threonine at position 43 is moderately conserved, considering 11 species, and computational analyses of the effects of the p.Thr43Ser variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated , PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Thr43Ser variant cannot be determined with certainty.

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