ClinVar Miner

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

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Total submissions: 4
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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

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