ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) (rs778896252)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756537 SCV000884372 likely pathogenic not provided 2017-05-31 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000756537 SCV000920753 uncertain significance not provided 2018-09-16 no assertion criteria provided research
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001292008 SCV001481059 likely pathogenic Polycystic kidney disease no assertion criteria provided clinical testing The PKD2 p.Leu736_Asn737del variant was identified in 1 of 230 proband chromosomes (frequency: 0.004) from individuals or families with ADPKD and segregated with disease in multiple affected family members (Stekrova 2004). The variant was also identified in dbSNP (ID: rs778896252), LOVD 3.0 (2x ), and in ADPKD Mutation Database (as Highly Likely Pathogenic). The variant was not identified in ClinVar, or PKD1-LOVD. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). This variant is an in-frame deletion resulting in the removal of a Leucine (Leu) and Asparagine (Asn) residue at codon 736 and 737; the impact of this alteration on PKD2 protein function is not known. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more pathogenic role for this variant. This variant is classified as likely pathogenic.

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