ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala) (rs1085307551)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489538 SCV000576704 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing The c.9634_9635delTTinsGC variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.9634_9635delTTinsGC variant results in the replacement of the normal Phenylalanine residue at position 3212 with an Alanine residue, denoted p.Phe3212Ala. The c.9634_9635delTTinsGC variant is observed in 1/63130 (0.0015%) alleles from individuals of non-Finnish European background, in the ExAC dataset (Lek et al., 2016). The c.9634_9635delTTinsGC variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret c.9634_9635delTTinsGC as a variant of uncertain significance.

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