Submissions for variant NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr) (rs140687324)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000236941	SCV000293318	uncertain significance	not specified	2015-11-20	criteria provided, single submitter	clinical testing	The P12T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The 1000 Genomes Project reports P12T was observed in 2/978 (0.2%) alleles from individuals of South Asian background. The P12T 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 that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to 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	RCV000272467	SCV000358780	uncertain significance	Distal spinal muscular atrophy	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000415946	SCV000493465	uncertain significance	not provided	2016-07-31	criteria provided, single submitter	clinical testing
Invitae	RCV000415946	SCV000767193	benign	not provided	2018-10-23	criteria provided, single submitter	clinical testing