ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.1987A>G (p.Thr663Ala) (rs1212737816)

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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 RCV000757671 SCV000885982 uncertain significance not provided 2017-11-09 criteria provided, single submitter clinical testing The p.Thr663Ala variant has not been reported in the medical literature, and it is not listed in gene-specific variant databases. It is also absent from general population databases such as 1000 Genomes, the NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD) browser. The threonine at codon 663 is highly conserved considering 12 species up to fruit fly (Alamut software v2.10.0), but computational analyses predict conflicting effects of this variant on protein structure/function (SIFT: tolerated, PolyPhen2: possibly damaging, MutationTaster: disease causing). Based on the available information, the clinical significance of the p.Thr663Ala variant cannot be determined with certainty.

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