ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6173A>G (p.Tyr2058Cys) (rs398124380)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000493737 SCV000114076 uncertain significance not provided 2012-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000493737 SCV000581986 likely pathogenic not provided 2018-12-21 criteria provided, single submitter clinical testing The Y2058C variant in the NSD1 gene was previously reported in an individual with a clinical diagnosis of Sotos syndrome (Tatton-Brown et al., 2005). This variant was not observed in approximately 6500 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 Y2058C 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, and occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The Y2058C variant is a strong candidate for a disease-causing variant, however, the possibility it may be a rare benign variant cannot be excluded.

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