ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4195_4196inv (p.Trp1399Gln) (rs1555456192)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599203 SCV000710718 uncertain significance not specified 2018-02-19 criteria provided, single submitter clinical testing The c.4195_4196delTGinsCA variant in the PKD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes codon Tryptophan 1399 to be replaced with a Glutamine, denoted p.Trp1399Gln. The c.4195_4196delTGinsCA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.4195_4196delTGinsCA variant causes a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret c.4195_4196delTGinsCA as a variant of uncertain significance.

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