ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1357G>A (p.Gly453Ser) (rs1022821298)

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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 RCV000757495 SCV000885743 uncertain significance not provided 2018-05-05 criteria provided, single submitter clinical testing The p.Gly453Ser variant (rs1022821298) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD). The glycine at position 453 is highly conserved up to C. elegans (Alamut v2.11) and computational analyses of the p.Gly453Ser variant on protein structure and function indicates a deleterious effect (SIFT: damaging, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Gly453Ser variant with certainty.

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