ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.377C>T (p.Pro126Leu) (rs1567219166)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785951 SCV000924533 uncertain significance Autosomal recessive polycystic kidney disease 2018-06-15 criteria provided, single submitter research The heterozygous p.Pro126Leu variant was identified by our study in the compound heterozygous state, with another VUS, in one individual with severe cystic kidney disease. This variant was absent from large population studies. The Proline (Pro) at position 126 is conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not be tolerated. Computational prediction tools suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of thhis variant is uncertain.

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