ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.868G>A (p.Ala290Thr)

dbSNP: rs1060503545
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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 RCV000463759 SCV000553337 uncertain significance Diamond-Blackfan anemia 2016-06-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RPL5-related disease. This sequence change replaces alanine with threonine at codon 290 of the RPL5 protein (p.Ala290Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. 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 novel 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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