ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.784A>G (p.Met262Val)

gnomAD frequency: 0.00002  dbSNP: rs748328963
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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 RCV001351604 SCV001546094 uncertain significance Dowling-Degos disease 2 2020-06-30 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 262 of the POFUT1 protein (p.Met262Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs748328963, ExAC 0.01%). This variant has not been reported in the literature in individuals with POFUT1-related conditions. 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 and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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