ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1426G>A (p.Glu476Lys)

gnomAD frequency: 0.00003  dbSNP: rs1553200926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315206 SCV000739627 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-09-16 criteria provided, single submitter clinical testing The p.E476K variant (also known as c.1426G>A), located in coding exon 4 of the SKI gene, results from a G to A substitution at nucleotide position 1426. The glutamic acid at codon 476 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available 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 alteration remains unclear.
GeneDx RCV001805223 SCV002050451 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at 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# 520163; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 27535533)
PreventionGenetics, part of Exact Sciences RCV003965304 SCV004780737 uncertain significance SKI-related condition 2023-11-07 criteria provided, single submitter clinical testing The SKI c.1426G>A variant is predicted to result in the amino acid substitution p.Glu476Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-2235493-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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