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

dbSNP: rs1567191874

Total submissions: 5

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	RCV000992593	SCV001144997	uncertain significance	not provided	2019-06-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000992593	SCV005330613	likely pathogenic	not provided	2024-08-01	criteria provided, single submitter	clinical testing	PKD1: PM2, PS4:Moderate, PP3, PP4
Mayo Clinic Laboratories, Mayo Clinic	RCV000992593	SCV005411216	uncertain significance	not provided	2024-08-26	criteria provided, single submitter	clinical testing	PP3, PM2
Fulgent Genetics, Fulgent Genetics	RCV005012305	SCV005641278	likely pathogenic	Polycystic kidney disease, adult type	2024-05-17	criteria provided, single submitter	clinical testing