ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1877A>T (p.Lys626Met) (rs774106502)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621679 SCV000739608 uncertain significance Cardiovascular phenotype 2016-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585615 SCV000692596 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763830 SCV000894751 uncertain significance Shprintzen-Goldberg syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000585615 SCV000250684 uncertain significance not provided 2016-04-21 criteria provided, single submitter clinical testing The K626M variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The K626M variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K626M 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 across mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, no missense mutations in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al., 2014), indicating that this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

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