ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.7414C>T (p.Pro2472Ser)

gnomAD frequency: 0.00006  dbSNP: rs143159061
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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 RCV000551289 SCV000623218 uncertain significance Beckwith-Wiedemann syndrome 2017-04-18 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 2472 of the NSD1 protein (p.Pro2472Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs143159061, ExAC 0.02%) but has not been reported in the literature in individuals with a NSD1-related disease. 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. In summary, this variant is a rare 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.

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