ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)

dbSNP: rs1567191874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000785952 SCV000924534 uncertain significance Autosomal recessive polycystic kidney disease 2018-06-15 criteria provided, single submitter research The heterozygous p.Pro2219Leu 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 2219 is conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not be tolerated. Computational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain.
Athena Diagnostics Inc RCV000992593 SCV001144997 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing

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