ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe)

dbSNP: rs587784129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV003231250 SCV000194184 pathogenic Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336291 SCV002639625 uncertain significance Inborn genetic diseases 2020-05-21 criteria provided, single submitter clinical testing The p.S1636F variant (also known as c.4907C>T), located in coding exon 12 of the NSD1 gene, results from a C to T substitution at nucleotide position 4907. The serine at codon 1636 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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