ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr) (rs140817021)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000236656 SCV000705491 likely benign not specified 2017-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000236656 SCV000293372 uncertain significance not specified 2015-12-22 criteria provided, single submitter clinical testing The M161T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M161T variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, but the 1000 Genomes Project reports it was observed in 9/1008 (0.9%) alleles from individuals of East Asian background. The M161T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species. However, in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000399593 SCV000358771 uncertain significance Distal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000645450 SCV000767195 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2017-08-16 criteria provided, single submitter clinical testing

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