ClinVar Miner

Submissions for variant NM_018648.4(NOP10):c.89C>G (p.Ala30Gly)

dbSNP: rs748193565
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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 RCV001062894 SCV001227718 uncertain significance Dyskeratosis congenita, autosomal recessive 1 2019-12-04 criteria provided, single submitter clinical testing 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 disruptive, 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. This sequence change replaces alanine with glycine at codon 30 of the NOP10 protein (p.Ala30Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs748193565, ExAC 0.01%). This variant has not been reported in the literature in individuals with NOP10-related conditions.

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