ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.91T>C (p.Ser31Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853353 SCV000996219 pathogenic Shprintzen-Goldberg syndrome 2018-11-29 criteria provided, single submitter clinical testing This variant has not been previously reported or functionally characterized in the literature to our knowledge. However, a different missense variant involving the same amino acid residue (p.Ser31Leu) has been reported in a patient with Shprintzen-Goldberg syndrome (PMID: 23103230). The c.91T>C (p.Ser31Pro) variant detected in this individual localizes to the R-SMAD transcription factor binding domain and is situated in close proximity to multiple variants previously reported in patients with Shprintzen-Goldberg syndrome (PMID: 23103230, 23023332). This variant is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. It affects an amino acid that is highly conserved among vertebrates and is predicted by multiple in silico tools to have a deleterious effect on protein function. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.91T>C (p.Ser31Pro) variant is classified as pathogenic.

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