ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs774106502
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000585615 SCV000250684 uncertain significance not provided 2020-08-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (ClinVar Variant ID# 213698; Landrum et al., 2016)
CeGaT Center for Human Genetics Tuebingen RCV000585615 SCV000692596 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SKI: PP2, BS2
Ambry Genetics RCV002315618 SCV000739608 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-04-28 criteria provided, single submitter clinical testing The p.K626M variant (also known as c.1877A>T), located in coding exon 6 of the SKI gene, results from an A to T substitution at nucleotide position 1877. The lysine at codon 626 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly 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.
Fulgent Genetics, Fulgent Genetics RCV000763830 SCV000894751 uncertain significance Shprintzen-Goldberg syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763830 SCV001224429 likely benign Shprintzen-Goldberg syndrome 2023-09-08 criteria provided, single submitter clinical testing

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