ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2028C>G (p.His676Gln)

dbSNP: rs1203179478
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556095 SCV000637294 uncertain significance Shprintzen-Goldberg syndrome 2017-05-01 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. This sequence change replaces histidine with glutamine at codon 676 of the SKI protein (p.His676Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. While this variant is not present in population databases (no rsID), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a SKI-related disease.

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