ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu)

dbSNP: rs1562305653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV003232087 SCV000891284 likely pathogenic Sotos syndrome 2017-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001053071 SCV001217313 likely pathogenic Beckwith-Wiedemann syndrome 2019-04-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 2122 of the NSD1 protein (p.Phe2122Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with Sotos syndrome (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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