ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8932_8934TTC[1] (p.Phe2979del) (rs1358948221)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657874 SCV000779635 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing The c.8935_8937delTTC variant in the PKD1 gene has been reported previously as F2978del, in a woman and her children with autosomal dominant polycystic kidney disease (Bouba et al., 2001). The c.8935_8937delTTC variant results in an in-frame deletion and is predicted to cause loss of a Phenylalanine residue at codon 2979, denoted p.Phe2979del. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, the c.8935_8937delTTC variant is observed in 1/14950 (0.007%) alleles from individuals of European (non-Finnish) background, in large population cohorts (Lek et al., 2016). Therefore, we interpret c.8935_8937delTTC as a variant of uncertain significance.

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