Submissions for variant NM_003036.4(SKI):c.1384C>G (p.Pro462Ala) (rs199797772)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000467693	SCV000550379	likely benign	Shprintzen-Goldberg syndrome	2020-04-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621055	SCV000738430	uncertain significance	Cardiovascular phenotype	2016-07-12	criteria provided, single submitter	clinical testing	The p.P462A variant (also known as c.1384C>G), located in coding exon 4 of the SKI gene, results from a C to G substitution at nucleotide position 1384. The proline at codon 462 is replaced by alanine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs199797772. Based on data from ExAC, the G allele has an overall frequency of approximately 0.029% (29/100066). Based on data from the 1000 Genomes Project, the G allele has an overall frequency of approximately 0.05% (1/2098) total alleles studied. The highest observed frequency was 0.59% (1/170) British alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the G allele has an overall frequency of approximately 0.02% (3/12976) total alleles studied and 0.03% (3/8590) European American alleles. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000658485	SCV000780253	likely benign	not provided	2018-01-01	criteria provided, single submitter	clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251642	SCV001427380	uncertain significance	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing