ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1458+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314391 SCV004013701 uncertain significance RFT1-congenital disorder of glycosylation criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Intron variant. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.77). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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