ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)

gnomAD frequency: 0.00001  dbSNP: rs200874294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705117 SCV000250675 uncertain significance not provided 2020-03-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 213689; Landrum et al., 2016)
Invitae RCV000542904 SCV000637273 likely benign Shprintzen-Goldberg syndrome 2023-05-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000542904 SCV000894749 uncertain significance Shprintzen-Goldberg syndrome 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372648 SCV004094434 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-06-27 criteria provided, single submitter clinical testing The p.R357Q variant (also known as c.1070G>A), located in coding exon 2 of the SKI gene, results from a G to A substitution at nucleotide position 1070. The arginine at codon 357 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been reported in a whole exome sequencing cohort in an individual with developmental delays and multiple congenital anomalies (Baldridge D et al. Genet Med, 2017 Sep;19:1040-1048). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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