ClinVar Miner

Submissions for variant NM_000996.4(RPL35A):c.79_81CTT[1] (p.Leu28del) (rs116840807)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598888 SCV000709930 likely pathogenic not provided 2017-11-10 criteria provided, single submitter clinical testing The c.82_84delCTT variant has been published as a pathogenic variant in one individual with Diamond-Blackfan anemia (Farrar et al., 2008). The variant is not observed in large population cohorts (Lek et al., 2016). The c.82_84delCTT variant causes an in-frame deletion of Leucine 28. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
OMIM RCV000013876 SCV000034123 pathogenic Diamond-Blackfan anemia 5 2008-09-01 no assertion criteria provided literature only
GeneReviews RCV000013876 SCV000055724 pathologic Diamond-Blackfan anemia 5 2009-06-25 no assertion criteria provided curation Converted during submission to Pathogenic.

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